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:

(1)FAX

(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

(1)Reports
(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


 Introduction


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,
§1833(e).

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.







Submittig more than 12 ICD and supplemental DX code

The Centers for Medicare & Medicaid Services (CMS) requires all health plans to submit Health Insurance Portability and Accountability Act (HIPAA)-compliant 837 claims transactions to CMS for Medicare risk adjustment.

Chart review submissions

Electronic transactions related to chart reviews (i.e., resulting from the review of a medical chart) should be identified as such on all HIPAA-compliant 837 transactions.


• Code changes are important for proper reporting and reimbursement of transactions related to chart reviews.
• Proper identification of encounter data chart reviews is important because the CMS timely filing period is longer for chart review encounters (approximately 25 months from the date of service) than for original, or full, encounters (13 months from the date of service).

Please be aware of the following changes when submitting electronic transactions to CarePlus:

•    On encounters generated from a chart review, please submit your HIPAA-compliant 837 transactions with the following values:

*    LOOP 2300
i.    CLM02 = 0
ii.    PWK01 = 09
iii.    PWK02 = AA
o    LOOP 2400
i.    SV101-2 = 99499
ii.    SV102 = 0
iii.    SV101-7 = CR
•    Any diagnosis identified during the chart review also should be submitted on the HIPAA-compliant 837 transaction in the following loop and segment:
o    LOOP 2300
i.    HI01 – HI12 (as needed)


Additional diagnosis codes

CarePlus provides a supplemental Current Procedural Terminology (CPT®) code to assist in reporting additional diagnosis codes for risk adjustment because of practice management system or clearinghouse limitations.

• The supplemental CPT code is intended as a placeholder for additional diagnosis codes exceeding the fourth diagnosis pointer.

• The supplemental code should contain a $0.01 charge to ensure appropriate claim processing; however, there will be no additional reimbursement.




Please be aware of the following changes when submitting electronic transactions to CarePlus:

•    On encounters generated from office visits, please submit your HIPAA-compliant 837 transactions with the following values:
*    LOOP 2400
i.    SV101-2 = 99499
ii.    SV102 = .01
iii.    SV101-7 = DIAGNOSIS CODE LIMITATION
•    Any diagnosis identified during the office visit also should be submitted on the HIPAA-compliant 837 transaction in the following loop and segment:
o    LOOP 2300
i.    HI01 – HI12 (as needed)


Slide notes for submitting more than 19 ICD codes - No fault and worker compensation claims

There  may be times when a beneficiary is severely injured and the RRE has more than 19 ICD diagnosis codes to  report.

Since the Claim Input File Detail Record only has room for 19 ICD diagnosis codes, it is important that an RRE  reports at least one ICD diagnosis code for each injured body part.

In such a situation, it is likely that a number of the diagnosis codes relate to the same body part.  For example,  multiple diagnosis codes could be listed when a back injury occurs.

When there are more than 19 diagnosis  codes, be sure to report at least one diagnosis code for each body part  that was injured.  Eliminate diagnosis codes that refer to a previously reported body part.


submitting more than 12 ICDs example


Submitting more than 12 ICD by claim level

• Diagnoses should be reported in form locator field (FL) 66- 67 a-q on the CMS-1450 claim form. Up to 12 diagnoses can be reported in item 21 on the CMS-1500 paper claim (02/12) (see the 2015 PQRS Implementation Guide) and up to 12 diagnoses can be reported in the header on the electronic claim.

Only one diagnosis can be linked to each line item.

PQRS analyzes claims data using ALL diagnoses from the base claim (item 21 of the  CMS-1500 or electronic equivalent) and service codes for each individual EP (identified by individual NPI).

EPs should review ALL diagnosis and encounter codes listed on the claim to make sure they are capturing ALL measures chosen to report that are applicable to the patient's care.



• All diagnoses reported on the base claim will be included in PQRS  analysis, as some measures require  reporting more than one diagnosis on a claim. 

For line items containing QDC, only one diagnosis from the base claim should be  referenced  in the diagnosis pointer field.

To report a QDC for a measure that requires reporting of multiple diagnoses, enter the reference number in the diagnosis pointer field that corresponds to one of the measure’s diagnoses listed on the base claim. Regardless of the reference number in the diagnosis pointer field, all diagnoses on the claim(s) are considered in PQRS analysis. (See 2015 PQRS Implementation Guide)

• If your billing software limits the number of line items available on a claim, you must add a $0.01 nominal amount to one of the line items on that second claim for a total charge of one penny. 

PQRS analysis will subsequently join the claims based on the same beneficiary for the same date-of-service, for the same TIN/NPI and analyzed
as one claim.

Providers should work with their billing software vendor/clearinghouse regarding line limitations for claims to ensure that diagnoses, QDCs, or nominal charge amounts are not dropped.


In an effort to streamline reporting of QDCs across multiple CMS quality reporting programs, CMS strongly encourages all EPs and practices to begin billing 2015 QDCs with a $0.01 charge. EPs should pursue updating their billing software to accept the $0.01 charge prior to implementing 2015 PQRS. EPs and practices need to work with their billing software or  EHR vendor to ensure that this capability is activated.

CSHCS - Covered Benifits, renewal of coverage


Covered BENEFITS

CSHCS covers services that are medically necessary, related to the beneficiary’s qualifying diagnosis(es), and ordered by the beneficiary’s CSHCS authorized specialist(s) or subspecialist(s). Services are covered and reimbursed according to Medicaid policy unless otherwise stated in this chapter.

The primary CSHCS benefits may include:

* Ambulance

* Care Coordination*

* Case Management*

* Dental (Specialty and General)

* Dietary Formulas (limited)

* Durable Medical Equipment (DME)

* Emergency Department (ED)

* Hearing and Hearing Aids

* Home Health (intermittent visits)

* Hospice*

* Hospital at approved sites (Inpatient/Outpatient)

* Laboratory Tests

* Medical Supplies

* Monitoring Devices (Nonroutine)

* Office Visits to CSHCS Authorized Physicians


* Orthopedic Shoes

* Orthotics and Prosthetics

* Parenteral Nutrition

* Pharmacy

* Physical/Occupational/Speech Therapy

* Radiological Procedures

* Respite*

* Telemedicine

* Transplants and Implants

* Vision

(* Refer to the information and authorization requirements stated in this Section.)





PARTIAL MONTH COVERAGE


If a beneficiary enters or leaves a facility that is not a covered facility (e.g., nursing facility, or intermediate care facility) during a month of eligibility, the beneficiary remains a beneficiary for the remainder of that month. However, services provided to the beneficiary while in the facility are not covered (i.e., reimbursable) by CSHCS as these facilities are responsible for providing the medical care. (Refer to the General Information for Providers Chapter in this manual for additional information for beneficiaries who also have Medicaid coverage.)


RENEWAL OF COVERAGE


The beneficiary’s coverage may be renewed as needed if all eligibility criteria continue to be met and thefamily completes the renewal process. Medical review reports are required according to the timeframes  established based on the primary diagnosis for the beneficiary. An annual financial review is also required. If all of the criteria continue to be met for CSHCS coverage, a new coverage period is typically issued in 12-month increments.

CPT 0069U, 81229, 81327, 81407 - Miscellaneous Genetic and Molecular Diagnostic Tests

Code Description CPT

0069U Oncology (colorectal), microrna, rt-pcr expression profiling of mir-31-3p, formalinfixed paraffin-embedded tissue, algorithm reported as an expression score

81229 Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants for chromosomal abnormalities

81327 SEPT9 (Septin9) (eg, colorectal cancer) methylation analysis

81407 Molecular pathology procedure, Level 8 (eg, analysis of 26-50 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of >50 exons, sequence analysis of multiple genes on one platform)

81479 Unlisted molecular pathology procedure

84999 Unlisted chemistry procedure




Miscellaneous Genetic and Molecular Diagnostic Tests

Introduction


There are many genetic tests. High-quality medical studies show certain genetic tests are helpful when diagnosing some conditions or guiding treatment. However, not all genetic tests have been well studied. In some cases, studies have shown that genetic tests aren’t useful in making a diagnosis or changing care. This policy lists a number of genetic tests where there is not enough evidence in published medical studies to show that they bring health benefits. These tests are considered unproven. 

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.

Test Name Investigational

* Celiac PLUS * ColonSentry® * ColoVantage® * Crohn’s Prognostic * DecisionDx-Thymoma * DNA Methylation
Pathway Profile * Epi proColon®  * GI Effects® (Stool) * IBD sgi Diagnostic™  * ImmunoGenomic® Profile * Know Error™ * ResponseDX®: Colon * SEPT9 methylated DNA * TransPredict Fc gamma 3a

Coding


All of the tests listed in this policy are considered investigational and grouped according to the categories of genetic testing as outlined in Medical Policy 12.04.91 (General Approach to Genetic Testing; see Related Policies above): * Testing of an affected (symptomatic) individual’s germline to
benefit the individual (excluding reproductive testing) * Diagnostic testing * Prognostic testing * Therapeutic testing  Testing an asymptomatic individual to determine future risk of disease is considered investigational.  

Note: See Table 1 in Evidence Review for additional information about test names listed at the left.


Related Information
 


Genetic testing is considered investigational when criteria are not met, including when there is insufficient evidence to determine whether the technology improves the net health outcome.

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.

Evidence Review

Description
 

There are numerous commercially available genetic and molecular diagnostic, prognostic, and therapeutic tests for individuals with certain diseases and or asymptomatic individuals with a future risk. This medical policy evaluates miscellaneous genetic and molecular diagnostic tests not addressed in a separate review. If a separate medical policy exists, then conclusions reached there supersede conclusions in this policy. The main criterion for inclusion in this policy is the limited evidence on the clinical validity for the test. As a result, these tests do not have clinical utility and the evidence is insufficient to determine the effect on health outcomes. The lack of


clinical utility of these tests is based on criteria outlined in a separate medical policy (see Related Policies).

Background


Tests that are assessed in this medical policy are listed in Table 1. Excluding reproductive testing, there are primarily three reasons why genetic and molecular tests might be useful to a person with a disease: diagnostic testing, prognostic testing, and therapeutic testing. A fourth reason would be testing that is done on an asymptomatic person to determine his/her future risk of developing the disease. 


Diagnostic Tests

Multiple Conditions

Single-nucleotide variants (SNVs) are the most common type of genetic variation, and each SNV represents a difference in a single nucleotide in the DNA sequence. Most commonly, SNVs are found in the DNA between genes and can act as biologic markers of genes and disease association. When SNVs occur within a gene or a gene regulatory region, they can play a more direct role in disease by affecting the gene’s function. SNVs may predict an individual’s response to certain drugs, susceptibility to environmental factors, and the risk of developing certain diseases.
DNA specimen provenance assays can be used to confirm that tissue specimens are correctly matched to the patient of origin. Specimen provenance errors may occur in up to 1% to 2% of pathology tissue specimens  and have serious negative implications for patient care if the error is not corrected. Analysis of DNA microsatellites from tissue specimens can be performed by analyzing long tandem repeats (LTR) and comparing the LTRs of the tissue specimen with LTRs from a patient sample.

Test Description: DNA Methylation Pathway Profile


The DNA Methylation Pathway Profile (Great Plains Laboratory) analyzes SNVs associated with certain biochemical processes, including methionine metabolism, detoxification, hormone imbalances, and vitamin D function. Intended uses for the test include clarification of a diagnosis suggested by other testing and as an indication for supplements and diet modifications.


Test Description: Know Error DNA Specimen Provenance Assay


The Know Error test (Strand Diagnostics) compares the LTRs of tissue samples with LTRs from a buccal swab of the patient. The intended use of the test is to confirm tissue of origin and avoid specimen provenance errors due to switching of patient samples, mislabeling, or sample contamination.

Celiac Disease 


Previously called sprue, celiac sprue, gluten-sensitive enteropathy, gluten intolerance, nontropical sprue, or idiopathic steatorrhea, celiac disease is an immune-based reaction to gluten (water insoluble proteins in wheat, barley, rye) that primarily affects the small intestine. Celiac disease occurs almost exclusively in patients who carry at least 1 human leukocyte antigen DQ2 or DQ8; the negative predictive value of having neither allele exceeds 98%.

 Serum antibodies to tissue transglutaminase, endomysium, and deamidated gliadin peptide (DGP) support a diagnosis of celiac disease, but diagnostic confirmation requires duodenal biopsy taken when patients are on a gluten-containing diet.

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