Medical billing specialist Job - Profile, skillset and duties

Lucrative career opportunities for medical billing specialists

When you think of large hospital networks, the first picture that comes to mind are doctors and nurses who are perhaps working relentlessly round the clock to restore the health of individuals who are suffering from some disease or injury. But to ensure that medical practitioners can concentrate on their jobs and the families of patients do not face any trouble, there is a large support group providing services round the clock as well.

Skillset required to become a medical billing specialist

Medical billing specialist jobs require a high level of understanding and analytics. If you are interested in becoming a medical billing specialist you must have a thorough knowledge of medical terminology, healthcare coding and collection system on the one hand and have excellent knowledge of the healthcare reimbursement process, debt collection laws, excellent coding and analytical skills on the other.

* Medical terminology
• Physiology and anatomy
• Medical billing instructions
• Medical coding instructions
• Knowledge in Medical software for billing.
• Working independently
• Paying Detailed attention
• Understanding the anatomy and physiology
• Knowing diagnosis and procedure coding
• Being able to think critically
• Communicate effectively
• Understanding the terminology
• Knowing how to enter the information in the insurance claim forms

 It is not just your professional expertise that matters as a medical billing specialist. There are several other soft skills required to become a medical billing specialist. For instance, you must excellent communication capabilities and the desire to provide great customer service. It is important for you to bear in mind that you have to be especially sensitive to the needs of the patients’ families who are not in the best frame of mind with a loved one in the hospital.

If you think you have it in you to become a medical billing specialist, after having gone through the extensive list of requirements that we have pointed out here, it is time to answer the next question that you have now about How do I become a medical billing specialist

Education and training required to attain a job

To become a medical billing specialist, you may opt for a training programme that is of a nine month- to a year long course that is offered at allied health schools or even at some vocational or technical schools. Alternatively, you can check out the two years associate degree programmes that community colleges provide for certification as a medical billing specialist.

There are several other online programmes or distant learning opportunities that you can choose from, for basic training and certification as a medical training specialist. At this point, however we need to bring to your attention that while certification is not mandatory to get a job as a medical billing specialist, it certainly gives you an edge over other candidates when you are in the process of seeking employment.

Further, with a certification will also enhance the potential of you receiving a higher salary than those who do not have any certification or formal training as a medical billing specialist. An individual without any certification may have to show 1-3 years’ experience in working with an established medical care provider to be able to procure a job, whereas with specialized training and certification you are likely to be employed without any experience to show.

Having understood how to become a medical billing specialist, the responsibilities the job entails and the training and certification it requires, you would perhaps eager to know at this stage, how much do billing specialist make. The range of salary of a medical billing specialist falls in the range of $ 38,000 to $45,000 in the present year. However, as mentioned earlier, salaries may vary greatly depending upon many factors such as education, training, experience and additional skills to mention a few.

Duties involved in Medical billing specialist

Medical billing duties There are tasks you are supposed to do in virtually every day and every position:

• Maintaining up- to-date on insurance claims regulations and rules.
• Sending claims and statements to patients.
• Entering charges to the accounts of patients in the software.
•  Post payments and reimbursement to patients’ claims.
•Follow up to  insurance regarding unpaid claims.
• Sending appeal rejected or not payable claims.
• Keep insurance and law employees informed.
• Ensure the request and receipt of prior authorization.

Job profile of a medical billing specialist

With hospital administration getting superior each day with use of technology one of jobs that is in high demand in the medical profession is that of a medical billing specialist. The question that you are likely to ask at this point is what are the duties of medical billing specialist. Here is what you need to know if you are interested in the same.

Medical billing specialists are trained professionals who are entrusted with cash flow of the hospital administration. Thus, their duties entail the coding and processing of the information that they receive from the medical care providers, translate it onto the invoice. They also work closely with the patient parties, the insurance companies and the government agencies to ensure that payments go through smoothly, without any hassle to both the patient party on the one hand and the medical care providers on the other

Opportunities galore for medical billing specialists today

The career opportunities for medical billing specialists are vast in the modern-day context. As a trained and certified medical biller, you are likely to be absorbed in medical facilities such as hospitals, clinics, private practices among other. Further, there are many government agencies and insurance providers are also increasingly hiring medical billing specialists as processes are becoming more detailed.

Employment in most of these organizations is a full-time engagement, during normal business hours. After gaining certain years of experience you may also seek opportunities to work as contract employee and accept work of more than one facility or physician and opt to work from home. Thus, as you can see, the job of a medical billing specialists is a rather lucrative one, with opportunities in healthcare expanding by leaps and bounds. Thus, if you have it in you to become one, it is prudent to seek certification and training for the job right away. 

Medicaid coverage on specaility dental, general dental

Medicaid Coverage of Dental Benefits for Adults

Key Points

• Poor oral health is widespread among adults in the United States and especially affects those with low incomes.

– Adults with incomes below 100 percent of the federal poverty level (FPL) are three times more likely to have untreated dental caries—commonly known as cavities—than adults with incomes above 400 percent FPL.

– Thirty-seven percent of adults age 65 and older with incomes below 100 percent FPL had complete tooth loss compared to 16 percent of those with incomes at or above 200 percent FPL.

• Individuals with a range of chronic conditions are more susceptible to oral disease.

Oral disease can also exacerbate chronic disease symptoms. Poor oral health can limit communication, social interaction, and employability.

• Medicaid programs are required to cover dental services for children and youth under age 21 but there are no minimum coverage requirements for adults. As a result, adult dental benefits vary widely across states. For example, as of February 2015:

– 19 states provided emergency-only adult dental benefits for non-pregnant,

non-disabled adults;
– 27 states covered preventive services;
– 26 states covered restorative services;
– 19 states covered periodontal services;
– 25 states covered dentures;
– 25 states covered oral surgery;
– 2 states covered orthodontia; and
– 9 states placed an annual dollar limit
on covered dental services.

• States change Medicaid coverage of adult dental benefits on a regular basis, cutting benefits when budgets are tight and expanding them when more funds are available.

• Initiatives to improve access to dental services include using mobile clinics and telehealth technologies, increasing the number of providers serving Medicaid enrollees, and funding demonstrations to encourage Medicaid enrollees to increase dental utilization. For example:

– In 2014, the Health Resources and Services Administration supported 238 school-based health center oral health activities through capital grants.

– The National Health Service Corps and some states offer student loan repayment assistance to dentists who commit to working in high-need, underserved, or rural areas.

– Minnesota and Alaska have amended state scope-of-practice laws to allow mid-level dental practitioners to provide dental services.

 Types of Adult Dental Services Covered for Non-Pregnant, Non-Disabled Adults under Medicaid, 2015

Type of service Number of states Services typically included Emergency only 18 Emergency extractions, other procedures for immediate pain relief

 More extensive 33

 Preventive 28 Examinations, cleanings, and sometimes fluoride application or sealants

 Restorative 26 Fillings, crowns, endodontic (root canal) therapy

 Periodontal 19 Periodontal surgery, scaling, root planing (cleaning below the gum line)

 Dentures 26 Full and partial dentures

 Oral surgery 25 Non-emergency extractions, other oral surgical procedures

 Orthodontia 2 Braces, headgear, retainers

Children’s Dental Services Covered by the All Kids Program or the Early Periodic Screening, Diagnosis and Treatment (EPSDT) Program:

Type of Service Frequency Age Range Additional Details

Exam   --     Every six months 0-20 years old Completion of mandated school dental exam form is considered part of the oral exam; Exam necessary even if no pain/problems exists

Cleaning    --     Every six months 0-20 years old Routine prophylaxis

Fluoride    -Three treatments every 12 months   -0-2 years old           every 12 months- One treatment 3-20 years old -

ealants Once per lifetime 5-17 years old

X-Rays -- One complete set every three years 0-20 years old

Fillings One per tooth per 12 months 0-20 years old

Crowns One per tooth per 60 months 0-20 years old Pre-authorization and x-ray documentation required*

Extractions -- 0-20 years old Removal of teeth free from pathology is not covered; some extractions require prior authorization*

Root Canals -- One per tooth per lifetime 0-20 years old Refer to the Dental Office Reference Manual (DORM) as additional guidance and limitations
may exist*


Specialty dentistry refers to services that are not covered under the Medicaid dental benefit but are covered for CSHCS enrollees who have a qualifying diagnosis that may include specialty dental services. Services include, but are not limited to, dental implants, orthodontia and specialty crown and bridge. All CSHCS beneficiaries do not qualify for specialty dental services. Qualification for specialty dental services is based on the specific diagnoses and treatment plan. Examples of CSHCS diagnoses that may qualify for specialty dental services include:

* Amelogenesis imperfecta, Dentinogenesis imperfecta

* Anodontia which has significant effect on function

* Cleft palate

* Ectodermal dysplasia, epidermolysis bullosa with significant tooth involvement

* Juvenile periodontosis

* Juvenile rheumatoid arthritis and related connective tissue disorders with jaw dysfunction secondary to tempromandibular joint arthritic involvement

* Post-operative care related to neoplastic jaw disease

* Severe malocclusion requiring orthognathic surgery

* Severe maxillofacial or craniofacial anomalies that require surgical intervention

* Traumatic injuries to the dental arches

To request approval as a CSHCS Specialty provider, dentists must contact MDHHS. (Refer to the Directory Appendix for contact information.)


General dentistry refers to services covered under the Medicaid dental benefit that may be covered for CSHCS enrollees who have a qualifying diagnosis that includes general dental services. Examples include, but are not limited to, diagnostic, preventive, restorative, endodontia, prosthodontia, and oral surgery. MDHHS may determine a beneficiary eligible for certain general dentistry services when the CSHCS qualifying diagnosis is related to conditions eligible for this coverage as identified below:

* Chemotherapy or radiation which results in significant dental side effects

* Cleft lip/palate/facial anomaly

* Convulsive disorders with gum hypertrophy

* Cystic Fibrosis

* Hemophilia and/or other coagulation disorders

* Pre- and post-transplant

To request approval as a CSHCS General Dentistry provider, dentists must contact MDHHS. (Refer to the Directory Appendix for contact information.)

NOTE: Hospital charges (e.g., general anesthesia, facility charges, etc.) may be covered for dental services provided through the inpatient or outpatient hospital facility for beneficiaries with certain CSHCS diagnoses even though CSHCS does not cover the dental care itself.


Beneficiaries enrolled in CSHCS with identified needs may be eligible to receive Care Coordination services.

Care Coordination services may be provided by the local health department. LHD staff includes registered nurses (RNs), social workers, or paraprofessionals under the direction and supervision of RNs.

Staff must be trained in the service needs of the CSHCS population and demonstrate skill and sensitivityin communicating with children with special needs and their families.

Care Coordination is not reimbursable for beneficiaries also receiving Case Management services during the same LHD billing period, which is usually a calendar quarter. In the event Care Coordination services are no longer appropriate and Case Management services are needed, the change in services may only be made at the beginning of the next billing period.

Families/beneficiaries can contact the LHD for assistance in obtaining Care Coordination services.

Medicaid hospice, respite benefit - CSHCS

What Is Hospice Care?

Medicaid participants can receive hospice care when they are terminally ill. “Terminally ill” means the patient has been diagnosed with a medical condition that reduces their life expectancy and is near the end of life. Each State can decide the length of the life expectancy a patient must have to receive hospice care under Medicaid. Some States, including Kentucky[1] and Texas,[2] use the Medicare definition of “terminally ill” as a medical prognosis with a life expectancy of 6 months or less if the illness runs its normal course.[3] Other States, like New York, define “terminally ill” as a medical prognosis with a life expectancy of 12 months or less for hospice eligibility.[4] Your State may allow the election of the hospice benefit sooner. Check with your SMA if you have questions.

The goal of hospice care is to:

• Improve quality of life; and
• Help manage a terminal illness and related conditions


Under Medicare/Medicaid, hospice is a comprehensive program of care delivered in a person’s home. The Hospice Medicare and/or Medicaid Benefit provides all the reasonable and necessary medical and support services for the management of a terminal illness.


• physician services provided by LifeCare Hospice Medical Director
• nursing care from LifeCare Hospice nurses
• medical equipment and supplies
• medicines for symptom management and pain relief
• short-term (hospitalization) inpatient care for symptom management
• home health aide services
• specialized therapies such as physical therapy, speech therapy, etc.
• medical social services
• counseling, including dietary and bereavement counseling
• respite care: up to 5 days stay in a contract facility
• continuous care is utilized on a short-term basis to maintain a person’s comfort in the home.


 Hospice care is available under this Benefit only if:
• the patient is eligible for Medicare Hospital Insurance (Part A), or Medicaid.
• the patient’s doctor and the hospice medical director certify that the patient is terminally ill, with a life expectancy of six months or less.
• the patient signs a statement choosing The Hospice Medicare and/or Medicaid Benefit.
• the patient receives care from a Medicare-approved hospice program.


Medicare/Medicaid Benefit Periods: Special benefit periods apply to hospice care. These periods are as follows:

First Benefit Period -- 90-days

Second Period -- 90-days

Unlimited number of subsequent 60-day periods

The benefit periods may be used consecutively or at intervals. Regardless of whether they are used one right after the other or at different times, the patient must be recertified with a life expectancy of six months or less, before the beginning of each benefit period.


To assure compliance with Medicare/Medicaid rules and regulations, all patients receiving the Hospice Medicare/Medicaid Benefit must be evaluated near the end of each benefit period. Recertification is a decision process which is completed by the Medical Director with physician, patient/family, and Hospice Team input. The outcome determines a patient’s eligibility for continued hospice services into the next benefit period. The same rules apply during recertification that were followed at the time of admission.

As a part of the recertification process, your attending physician may request that certain diagnostic tests be completed or repeated. This will assist the Medical Director and your physician in making their decision about your case.

If, at recertification, the patient has improved – Medicare/Medicaid rules state that the Hospice is required to suspend hospice care. If hospice care is suspended and in the future the patient declines, hospice care may be started again.

Should you have questions or concerns about the recertification process, please feel free to contact your Nurse Case Manager, or the Patient Care Coordinator. Should you disagree with the Medical Director’s decision, you may appeal to Medicare by filing a Demand Bill. Please call the Patient Care Coordinator for information, should you wish to appeal.

What Does the Medicaid Hospice Program Cover?

Hospice services are covered as part of your Medicaid benefits.[22] Services are provided by a team to meet your needs. The hospice team may include you, your family, and others who can help meet your physical, psychosocial, spiritual, and emotional needs. Your needs are written in a plan of care (POC), also called a plan.

The benefits listed below are examples of hospice services you may receive:

• Physician services provided by the hospice agency;
• Nursing care;
• Medical equipment;
• Medical supplies;
• Drugs for symptom control and pain relief;
• Hospice aide and homemaker services;
• Physical therapy;
• Occupational therapy;
• Speech-language pathology services;
• Social worker services;
• Dietary counseling; and
• Short-term inpatient care for pain control, symptom management, and respite care.

Hospice benefits may also include anything needed to manage your terminal illness and related conditions that is normally covered by Medicaid. The following hospice services must be provided directly by hospice employees:

• Nursing care;
• Physician services;
• Medical social services; and
• Counseling.

Other hospice services may be provided, such as visits by a physician who specializes in your illness.Hospice benefits may be different in each State. Check with your SMA about hospice benefits in the area.


The CSHCS hospice benefit provides assistance to a family/beneficiary when end of life care related to the beneficiary’s CSHCS qualifying diagnosis is appropriate. Hospice is intended to address the medical needs of the beneficiary with a terminal illness whose life expectancy is limited to six months or less.

Hospice services must be prior authorized. Prior authorization requests require medical documentation from the beneficiary’s enrolled CSHCS subspecialist who is authorized (i.e., listed on the beneficiary’s CSHCS authorized provider file) to treat the terminal illness. The medical documentation must include all of the following:

* A statement of the terminal diagnosis.

* A statement that the beneficiary has reached the terminal phase of illness where the CSHCS subspecialist deems end of life care necessary and appropriate.

* Documentation of the need to pursue end of life care.

* A statement of limited life expectancy of six months or less.

* A proposed plan of care to address the service needs of the beneficiary that is:

* less than 30 days old;

* consistent with the philosophy/intent of the CSHCS hospice benefit as described above;

* clinically and developmentally appropriate to the beneficiary’s needs and abilities;

* representative of the pattern of care for a beneficiary who has reached the terminal phase of illness; and

* signed by the CSHCS subspecialist authorized to treat the terminal illness.

The prior authorization time period does not exceed six months. To continue hospice services beyond six months, a new prior authorization request with medical documentation must be submitted as described above.

Hospice may not be authorized and/or continued for a beneficiary when one or more of the following is true:

* The medical documentation no longer supports the above criteria (e.g., change in condition, change in the plan of care, etc.).

* The family chooses to discontinue hospice.

* The medical services being rendered by the hospice provider are available through another benefit.

Requests for hospice must be made in writing to CSHCS. (Refer to the Directory Appendix for contact information.) CSHCS responds to all prior authorization requests for hospice services in writing.


Respite services provide limited and temporary relief for families caring for beneficiaries with complex health care needs when the care needs require nursing services in lieu of the trained caregivers. Services are provided in the family home by hourly skilled and licensed nursing services as appropriate. To be eligible and authorized for respite, MDHHS must determine the beneficiary to have:

* Health care needs that meet the following criteria:

* That skilled nursing judgments and interventions be provided by licensed nurses in the absence of trained and/or experienced parents/caregivers responsible for the beneficiary’s care;

* That the family situation requires respite; and

* That no other community resources are available for this service.

* No other publicly or privately funded hourly skilled nursing services in the home that would be duplicated by the CSHCS respite benefit.

* Service needs which can reasonably be met only by the CSHCS Respite benefit, not by another service benefit.

Respite is reimbursed when provided by a Medicaid enrolled home health agency, a Medicaid enrolled registered nurse (RN) who is licensed to practice in the state of Michigan, or a Medicaid enrolled licensed practical nurse (LPN) who is licensed to practice in the state of Michigan and working under supervision according to the Michigan Public Health Code. It is the responsibility of the LPN to secure the appropriate supervision and maintain documentation that identifies the supervising professional.

A maximum of 180 hours of CSHCS Respite services may be authorized per family during the 12-montheligibility period. When there is more than one respite-eligible beneficiary in a single home, the respite  service is provided by one nurse at an enhanced reimbursement rate for the services provided to multiple beneficiaries. Allotted respite hours may be used at the discretion of the family within the eligibility period. Unused hours from a particular eligibility period are forfeited at the end of that period and cannot be carried forward into the next eligibility period.

Beneficiaries receiving services through any of the following publicly funded programs and benefits are not eligible for the CSHCS Respite benefit:

* Private Duty Nursing Benefit

* Children’s Waiver

* Habilitation Supports Waiver

* MI Choice Waiver

Requests for respite must be made in writing to MDHHS (refer to the Directory Appendix for contact information) and include
the following information:

* The health care needs of the beneficiary;

* The family situation that influences the need for respite; and

* Other community resources or support systems that are available to the family (e.g., CMH services, MDHHS services, adoption subsidy, SSI, trust funds, etc.).

MDHHS responds to all requests for respite in writing.

Electronic Bill Attachments - Basic requirments - WC claim and commercial

Electronic Bill Attachments

(a)Required reports and/or supporting documentation to support a bill as defined in Complete Bill Section 3.0 shall be submitted in accordance with this section. Unless otherwise agreed by the parties, all attachments to support an electronically submitted bill must either have a header or attached cover sheet that provides the following information:

(1)Claims Administrator - the name shall be the same as populated in the 005010X222, 005010X223, or 005010X224. Loop 2010BB, NM103.

(2)Employer - the name shall be the same as populated in the 005010X222, 005010X223, or 005010X224, Loop 2010BA, NM103.

(3)Unique Attachment Indicator Number - the Unique Attachment Indicator Number shall be the same as populated in the 005010X222, 005010X223, or 005010X224, Loop 2300, PWK Segment: Report Type Code, the Report Transmission Code, Attachment Control Qualifier (AC) and the unique Attachment Control Number. It is the combination of these data elements that will allow a claims administrator to appropriately match the incoming attachment to the electronic medical bill. Refer to the Companion Guide Chapter 2 for information regarding the Unique Attachment Indicator Number Code Sets.

(4)Billing Provider NPI Number – the number must be the same as populated in Loop 2010AA, NM109. If the provider is ineligible for an NPI, then this number is the provider?s atypical billing provider ID. This number must be the same as populated in Loop 2010AA, REF02.

(5)Billing Provider Name.

(6)Bill Transaction Identification Number – This shall be the same number as populated in the ASC 005010X222, 005010X223, or 005010X224 transactions, Loop 2300 Claim Information, CLM01.

(7)Document type – use Report Type codes as set forth in Appendix C of the Companion Guides.

(8)Page Number/Number of Pages the page numbers reported should include the cover sheet.

(9)Contact Name/Phone Number including area code.

(b)All attachments to support an electronically submitted bill shall contain the following information in the body of the attachment or on an attached cover sheet:

(1)Patient?s name

(2)Claims Administrator?s name

(3)Date of Service

(4)Date of Injury

(5)Social Security number (if available)

(6)Claim number (if available)

(7)Unique Attachment Indicator Number

(c)All attachment submissions shall comply with the rules set forth in Section One – 3.0 Complete Bills and Section Three – Security Rules. They shall be submitted according to the protocols specified in the Companion Guide Chapter 8 or other mutually agreed upon methods.
(d)Attachment submission methods:


(2)Electronic submission – if submitting electronically, the Division strongly recommends using the ASC X12N/005010X210 Additional Information to Support a Health Care Claim or Encounter (275) transaction set. Specifications for this transaction set are found in the Companion Guide Chapter 8. The Division is not mandating the use of this transaction set. Other methods of transmission may be mutually agreed upon by the parties.

(3)E-mail – must be encrypted

(e)Attachment types

(2)Supporting Documentation
(3)Written Authorization
(4)Misc. (other type of attachment)

Guidelines for submitting attachments, and corrected and secondary claims

Electronic claims with attachments To submit electronic claims with attachments, including high-dollar itemized claims:

› In the 837: Loop 2300 PWK (paperwork) segment of the claim, and indicate that notes will be faxed or mailed. (Do not put the actual notes in the segment.)

› Include in the notes:
– Patient name – Total amount billed
– Patient Cigna ID – Health care professional
– Date of birth – Taxpayer Identification Number (TIN)

Corrected claims submission

› In the Claim Frequency Type Code in Loop 2300, Segment CLM05, specify the frequency of the claim. (This is the third position of the Uniform Billing Claim Form Bill Type.)

› Use one of these codes:

1 – Original (admit through discharge claim)

7 – Replacement (replacement of prior claim)

8 – Void (void or cancel of prior claim)

Secondary claims submission
Secondary claims should be submitted to Cigna electronically. COB information is billed in Loops 2320 and 2330 on the electronic claim form. For further information, check with your EDI vendor.

Submitting via web portal - Additional information

As an Amerigroup provider, you can now send up to 10 unsolicited attachments through the web portal. You may submit up to 10 attachments for each claim, with a maximum file size of 10MB per attachment. This service includes attachments for secondary claims, or even attachments that are not related to a claim at all. Availity rejects any individual files larger than 10MB and requests that you split larger files into smaller files. Files can be submitted as TIFFs (.tif), JPEGs (.jpg), and PDFs (.pdf). This new feature allows your team to submit supporting
medical documentation for claims without prompting by Amerigroup.

CPT 81401, 81405, 81408, 81410, 81411 - Genetic Testing for Marfan Syndrome

Coding  Code Description CPT

81401 MED12 (mediator complex subunit 12)(eg, FG syndrome type 1, Lujan syndrome), common variants (eg, R961W, N1007S)

81405 ACTA2 (actin, alpha 2, smooth muscle, aorta) (eg, thoracic aortic aneurysms and aortic dissections), full gene sequence TGFBR1 (transforming growth factor, beta receptor 1) (eg, Marfan syndrome), full gene sequence

81408 FBN1 (fibrillin 1) (eg, Marfan syndrome), full gene sequence 
MYH11 (myosin, heavy chain 11, smooth muscle) (eg, thoracic aortic aneurysms and aortic dissections), full gene sequence

81410 Aortic dysfunction or dilation (eg, Marfan syndrome, Loeys Dietz syndrome, EhlersDanlos syndrome type IV, arterial tortuosity syndrome); genomic sequence analysis panel, must include sequencing of at least 9 genes, including FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK

81411 Aortic dysfunction or dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); duplication/deletion analysis panel, must include analyses for TGFBR1, TGFBR2, MYH11, and COL3A1

Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders


Connective tissue is one kind of tissue that is found in the body. It connects and provides support to other tissues such as muscles, nerves, and the skin. For example, fat, bone and cartilage are types of connective tissues. Some problems with connective tissue can be inherited. This policy describes when it may be medically necessary to do genetic testing to look for inherited connective tissue disorders. 

Note:   The Introduction section is for your general knowledge and is not to be taken as policy coverage criteria. The rest of the policy uses specific words and concepts familiar to medical professionals. It is intended for providers. A provider can be a person, such as a doctor, nurse, psychologist, or dentist. A provider also can be a place where medical care is given, like a hospital, clinic, or lab. This policy informs them about when a service may be covered. 
Policy Coverage Criteria 

Testing Medical Necessity

Individual genetic testing for the diagnosis of Marfan
Individual genetic testing for the diagnosis of Marfan syndrome, other syndromes associated with thoracic aortic

Testing Medical Necessity

syndrome aneurysms and dissections, and related disorders, and panels comprised entirely of focused genetic testing limited to the following genes*FBN1 and MYH11 and ACTA2, TGFBR1, and TGFBR2 may be considered medically necessary when: * Signs and symptoms of a connective tissue disorder are Individual, targeted familial variant testing for Marfan syndrome

present, but a definitive diagnosis cannot be made using established clinical diagnostic criteria.
Individual, targeted familial variant testing for Marfan syndrome, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders, for assessing future risk of disease in an asymptomatic individual, may be considered medically necessary when there is a known pathogenic variant in the family. (See Additional Information section below)
Testing Investigational
Genetic testing panels for Marfan syndrome

Additional Information

Genetic testing panels for Marfan syndrome, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders that are not limited to focused genetic testing that do not meet the criteria for limited focused gene variant testing described above are considered investigational. (See Additional Information section below)

* Tissues that surround organs, blood vessels, and bones are called connective tissue. Changes to certain genes may cause problems with connective tissue. Specific genes can be tested to diagnose connective tissue problems. 

* Syndromes associated with thoracic aortic aneurysms may have established clinical criteria with major and minor criteria, eg, Marfan syndrome (Ghent criteria) and Ehlers-Danlos syndrome type IV, or may be associated with characteristic clinical findings. While most of these syndromes can be diagnosed based on clinical findings, these syndromes may be associated with variability in clinical presentation and may show overlapping features with each other, and with other disorders. The use of genetic testing to establish a diagnosis in a patient with a suspected connective tissue disorder is most useful in those patients who do not meet sufficient clinical diagnostic criteria at the time of initial examination, in patients who have an atypical phenotype and other connective tissue disorders cannot be ruled out, and in individuals who belong to a family in which a pathogenic variant is known (presymptomatic diagnosis).

* Genetic testing has conventionally been used when a definitive diagnosis of one of these syndromes cannot be made. More recently, panels using next-generation sequencing (NGS), which test for multiple genes simultaneously, have been developed for the syndromes associated with thoracic aortic aneurysms and dissections, and other conditions that may have overlapping phenotypes. Although the laboratory-reported sensitivity is high for some of the conditions on the panel, the analytic validity of these panels is unknown, and detection rates of variants of uncertain significance are unknown.

* However, there may be certain clinical scenarios in which focused panel testing may be appropriate to include a narrow list of differential diagnoses of thoracic aortic aneurysms and dissection based on clinical findings.

Panel Testing

Specific CPT codes for genetic panel tests associated with aortic dysfunction or dilation syndromes (81410 and 81411) are described in the coding table above with the genes included in each test.

Related Information 

Genetics Nomenclature Update

The Human Genome Variation Society nomenclature is used to report information on variants found in DNA and serves as an international standard in DNA diagnostics (see Table 2). The Society’s nomenclature is recommended by the Human Variome Project, the HUman Genome Organization, and by the Human Genome Variation Society itself.

The American College of Medical Genetics and Genomics and the Association for Molecular Pathology standards and guidelines for interpretation of sequence variants represent expert opinion from both organizations, in addition to the College of American Pathologists. These recommendations primarily apply to genetic tests used in clinical laboratories, including genotyping, single genes, panels, exomes, and genomes. Table 3 shows the recommended standard terminology—“pathogenic,” “likely pathogenic,” “uncertain significance,” “likely benign,” and “benign”—to describe variants identified that cause Mendelian disorders.

Table 2. Nomenclature to Report on Variants Found in DNA

Previous  Updated  Definition
Mutation Disease-associated variant Disease-associated change in the DNA sequence
 Variant Change in the DNA sequence 
 Familial variant Disease-associated variant identified in a proband for use in subsequent targeted genetic testing in first-degree relatives

ACMG-AMP Standards and Guidelines for Variant Classification

Previous  Definition

Pathogenic Disease-causing change in the DNA sequence
Likely pathogenic Likely disease-causing change in the DNA sequence 
Variant of uncertain significance Change in DNA sequence with uncertain effects on disease
Likely benign Likely benign change in the DNA sequence
Benign Benign change in the DNA sequence
American College of Medical Genetics and Genomics; AMP: Association for Molecular Pathology.

Genetic Counseling

Genetic counseling is primarily aimed at patients who are at risk for inherited disorders, and experts recommend formal genetic counseling in most cases when genetic testing for an inherited condition is considered. The interpretation of the results of genetic tests and the understanding of risk factors can be very difficult and complex. Therefore, genetic counseling will assist individuals in understanding the possible benefits and harms of genetic testing, including the possible impact of the information on the individual’s family. Genetic counseling may alter the utilization of genetic testing substantially and may reduce inappropriate testing. Genetic counseling should be performed by an individual with experience and expertise in genetic medicine and genetic testing methods.

Question: Claims processing for CPT Codes 81401-82408 when ICD-9s have been identified for coverage. The structure of these codes raises some practical considerations for claims submission and processing. The molecular pathology codes have a number of subparts, identified by specific genes. This means there could be a number of genes reported with the same CPT code. Each of those genes could have related ICD-9 codes. It would require reporting of the specific gene to be able to link the code with a diagnosis. In this draft coverage policy, 4 of the codes [81401, 81403, 81405, and 81406] have been associated with testing for Lynch Syndrome and would be covered for specific diagnosis codes. However, there are many genes under those same codes and other conditions that would be covered, e.g. lymphoma, leukemia which
are covered conditions (NCD §190.3).

Will claims for other gene testing reported under the same codes be denied because they do not have the ICD-9 for Lynch Syndrome? How are we to report testing for other genes and conditions reported under the same CPT code, so that they are not all inappropriately denied?

Response: These CPT codes are not gene specific and can be used for multiple tests. The higher level CPT codes are noted in the LCD to let providers know they are covered for the conditions listed in the policy. All other conditions are subject to the test being reasonable and medically necessary. We will request additional documentation for conditions or diseases that are not listed in the LCD for 81401, 81403, 81405 and 81406

Documentation Guidelines

Documentation must be adequate to verify that coverage guidelines listed above have been met. Thus, the medical record must contain documentation that the testing is expected to influence treatment of the condition toward which the testing is directed. The laboratory or billing provider must have on file the physician requisition which sets forth the diagnosis or condition that warrants the test(s). Examples of documentation requirements of the ordering physician/nonphysician practitioner (NPP) include, but are not limited to, history and physical or exam findings that support the decision making, problems/diagnoses, relevant data (e.g., lab testing, imaging results).

Documentation requirements of the performing laboratory (when requested) include, but are not limited to, lab accreditation, test requisition, test record/procedures, reports (preliminary and final), and quality control record. Documentation requirements for lab developed tests/protocols (when requested) include diagnostic test/assay, lab/manufacturer, names of comparable assays/services (if relevant), description of assay, analytical validity evidence, clinical validity evidence, and clinical utility.

Providers are required to code to specificity however, if an unlisted CPT code is used the documentation must clearly identify the unique procedure performed. When multiple procedure codes are submitted on a claim (unique and/or unlisted) the documentation supporting each code should be easily identifiable. If on review the contractor cannot link a billed code to the documentation, these services will be denied based on Title XVIII of the Social Security Act,

When the documentation does not meet the criteria for the service rendered or the documentation does not establish the medical necessity for the services, such services will be denied as not reasonable and necessary under Section 1862(a)(1)(A) of the Social Security Act.

Many applications of the molecular pathology procedures are not covered services given lack of benefit category (preventive service) and/or failure to reach the reasonable and necessary threshold for coverage (based on quality of clinical evidence and strength of recommendation). Furthermore, payment of claims in the past (based on stacking codes) or in the future (based on the new code series) is not a statement of coverage since the service was not audited for compliance with program requirements and documentation supporting the reasonable and necessary testing for the beneficiary. Certain tests and procedures may be subject to prepayment medical review (records requested) and paid claims must be supportable, if selected, for post payment audit by the MAC or other contractors. Tests for diseases or conditions that manifest severe signs or symptoms in newborns and in early childhood or that result in early death (e.g., Canavan disease) could be subject to automatic denials since these tests are not usually relevant to a Medicare beneficiary.

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