The Following Insurances and Requirements Are Included in This Policy

SUBJECT: / GENETIC TESTING REQUIREMENTS / REFERENCE # GL100-1
PAGE: Page 1 of 28
DEPARTMENT: DEPARTMENT OF LABORATORY MEDICINE
EFFECTIVE: 4/1/2013
APPROVED BY: / REVISED:

POLICY:

Genetic Testing is required to be scheduled prior to patients presenting to the laboratory for collection. This process will allow the scheduler to obtain the prior pre-authorization if needed from the ordering provider.

Genetic testing is typically an expensive test and many insurance companies require pre-authorization prior to performing. The physician ordering the test is required to obtain the authorization numberfrom the insurance company or meet the requirements for medical necessity if no authorization is needed.

The patient cannot have the testing performed without the information provided above. If the patient presents without the information the ordering physician will be contacted to provide the authorization or asked to complete an Advanced Beneficiary Notice (ABN) form. The signed ABN holds the patient responsible for charges if the insurance does not cover the testing.

The following insurances and requirements are included in this policy:

Highmark
UPMC
Cigna
Aetna
Gateway
Medicare
FirstCare PPO
HealthAmerica Coventry

Types of Genetic Testing:

Newborn Screening

Newborn screening is used just after birth to identify genetic disorders that can be treated early in life.

Diagnostic Testing

Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. Diagnostic testing can be performed before birth or at any time during a person’s life.

Carrier Testing

Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder and to people of certain ethnic groups with an increased risk of specific genetic conditions.

Prenatal testing

Prenatal testing is used to detect changes in the fetus’s genes or chromosomes before birth. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder. In some cases, prenatal testing can lessen a couple’s uncertainty or help them make decisions about a pregnancy.

Currently Available DNA-Based Gene Tests:

Alpha-1-antitrypsin deficiency (AAT; emphysema and liver disease)
Amyotrophic lateral sclerosis (ALS; Lou Gehrig’s Disease; progressive motor function loss leading to paralysis and death)
Alzheimer’s disease (APOE; late-onset variety of senile dementia)
Ataxia telangiectasia (AT; progressive brain disorder resulting in loss of muscle control and cancers)
Gaucher disease (GD; enlarged liver and spleen, bone degeneration)
Inherited breast or ovarian cancer (BRCA1/BRCA2; early onset tumors of breasts and ovaries)
Hereditary nonpolyposis colon cancer (CA; early-onset tumors of colon and sometimes other organs)
Central core disease (CCD; mild to severe muscle weakness)
Charcot-Marie-Tooth (CMT; loss of feeling in ends of limbs)
Congenital adrenal hyperplasia (CAH; hormone deficiency; ambiguous genitalia and male pseudohermaphroditism)
Cystic fibrosis (CF; disease of lung and pancreas resulting in thick mucous accumulations and chronic infections)
Duchenne muscular dystrophy/Becker muscular dystrophy (DMD, sever to mild muscle wasting, deterioration, weakness)
Dystonia (DYT; muscle rigidity; repetitive twisting movements)
Emanuel syndrome (severe mental retardation, abnormal development of the head, heart and kidney problem)
Fanconi anemia, group C (FA; anemia, leukemia, skeletal deformities)
Factor V Leiden (FVL; blood-clotting disorder)
Fragile X Syndrome (FRAX; leading cause of inherited mental retardation)
Galactosemia (GALT; metabolic disorder affects ability to metabolize galactose)
Hemophilia A and B (HEMA and HEMB; bleeding disorders)
Hereditary hemochromatosis (HFE; excess iron storage disorder)
Huntington’s disease (HD, usually midlife onset; progressive, lethal, degenerative neurological disease)
Marfan syndrome (FBNI; connective tissue disorder, tissues of ligaments, blood vessel walls, cartilage, heart valves and other structures abnormally weak)
Mucoplysaccharidosis (MPS; deficiency of enzymes needed to break down long chain sugars called glycosaminoglycans; corneal clouding, joint stiffness, heart disease, mental retardation)
Myotonic dystrophy (MD; progressive muscle weakness, most common form of adult muscular dystrophy)
Neurofibromatosis type 1(NF1; multiple benign nervous system tumors that can be disfiguring; cancers)
Phenylketonuria (PKU; progressive mental retardation due to missing enzyme; correctable by diet)
Polycystic kidney disease (PKD1, PKD2; cysts in the kidneys and other organs)
Adult polycystic kidney disease (APKD; kidney failure and liver disease)
PraderWilli/Angleman syndromes (PW/A; decreased motor skills, cognitive impairment early death)
Sickle cell disease (SS; blood cell disorder; chronic pain and infections)
Spinocerebellar ataxia, type 1(SCA1; involuntary muscle movements, reflex disorders, explosive speech)
Spinal muscular atrophy (SMA; severe, usually lethal progressive muscle-wasting disorder in children)
Tay-Sachs disease (TS; fatal neurological disease of early childhood, seizures, paralysis)
Thalassemias (THAL; anemias-reduced red blood cell levels)
Timothy syndrome (CACNA1C; characterized by sever cardiac arrhythmia, webbing of the fingers and toes called syndactyly, autism)

PROCEDURE:

Prior to genetic testing being performed the Physician’s office must contact the scheduling department at 724-357-7075. The scheduling staff will require the office to obtain the proper authorizationif needed prior to calling. The authorization and ordering script must be faxed at the time of scheduling.

The ordering script and authorization form will be scanned into Meditech for other departments to prepare for the patient arrival by the scheduling staff.

Appointments will have a two-day lead time and will only be scheduled Monday –Thursday 0630 to 1600 at the IRMC OP Lab at 835 Hospital Road location.Laboratory staff will have ample time to determine specimen requirements based on the test ordered and provide specimen integrity for shipping to the appropriate reference lab.

MeditechScheduling Softwareis programmed to flag the scheduling staff with the following message:

THIS PROCEDURE WILL MORE THAN LIKELY REQUIRE A PRE-AUTHORIZATION. OFFICES MUST CALL INSURANCE TO VERIFY PATIENT PLAN REQUIREMENTS PER CPT.

Physician’s office will be required to provide one of the following upon scheduling:

Authorization number

No authorization needed as per insurance
Name of the representative giving information from insurance provider
Info provided by representative
Who called (from Physician’s office)
Date and time called
No authorization and meeting medical necessity as per policy/procedure

The scheduler will place either the AUTHORIZATION # or NONE in the authorization field.

Patient presents with authorization or verification:

Testing can be ordered, collected and referred to the proper reference laboratory.
Verify if multiple testing is ordered that all requiring authorizations are denoted on the authorization form. If not an additional authorization may need to be obtained.

Patient presents without authorization:

The genetic test listing below denotes requirements for pre-authorizations prior to collection.

Contact the physician office and inform pre-authorization form must first be obtained prior to collection of specimen.

The physician office can fax the form to the collection site
Patient may need to return to have testing completed until authorization is received
If patient is unwilling to return, they can complete an ABN form with the understanding they are responsible financially for any charges to IRMC
The authorization or ABN must be scanned into the system along with the physician order

Highmark Requirements

Genetic testing performed on patients with no current evidence or manifestation of genetic disease (i.e., asymptomatic) is considered genetic screening and is non-covered except for those groups/programs that specifically identify coverage in benefits. This includes genetic testing performed to determine susceptibility or predisposition to diseases such as cancer and heart disease and genetic testing for carrier identification to determine if a person is a “carrier” of an abnormal gene.

Highmark requires a pre-authorization form for the following tests:

CYP2C19 (Drug Metabolism)
CYP2D6 (Drug Metabolism)
CYP2C9 (Drug Metabolism)
CPT 81275 KRAS Gene Mutation
CPT 81280 Long QT Syndrome Full Gene Sequence
CPT 81281 Long QT Syndrome Known Familial Sequence Variant
CPT 81282 Long QT Syndrome Deletion/Duplication Variants
CPT 81401 TPMT Genotyping
CPT 81403 Pancreatitis Mutation
CPT (Dependent on Agent)Infectious Agent Genotype
CPT 81479 Unlisted Pathology Test
CPT 83520x5, 88347, 88347x2, 81401 Chrons Prognostic
CPT 81257, 81401, 81403, 81404 Hgb Molecular
Exam And Selection Of Retrieved Archival

The following testing is covered for symptomatic patients. The testing is only covered for asymptomatic patients when the patient’s contract covers genetic testing. This is not an all-inclusive list.

CPT: 81292, 81293, 81294, 81295, 81296, 81298, 81299, 81300, 81301, 81317, 81318, 81319) Inherited susceptibility to colon cancer
CPT: 81220, 81221, 81222, 81223, 81224 Cystic Fibrosis Testing
CPT: 81256 Hemochromatosis
CPT:81257 Alpha-Thalessemia
CPT: 81255 Tay-Sachs Disease
CPT: 81251 Gaucher Disease
CPT: 81330 Niemann-Pic Disease
CPT: 81241 Factor V Leiden Thrombophilia
CPT: 81243, 81244 Fragile X Syndrome

Genetic testing for prenatal and preconceptual carrier screening is considered medically necessary for individuals of Ashkenazi Jewish ancestry in accordance with the American College of Medical Genetics guidelines as follows:

Bloom Syndrome
Canavan Disease
Cystic Fibrosis
Dihydrolipoamide Dehydrogenase Deficiency (DLD)
Familial Dysautonomia (FD)
Familial Hyperinsulinism (FHI)
Fanconi Anemia Type C
Gaucher Disease Type 1
Glycogen Storage Disease type 1A
Joubert Syndrome
Maple Syrup Urine Disease
Mucolipidosis IV
Nemaline Myopathy (NM)
Niemann-Pic Disease Type A
Spinal Muscular Atrophy
Usher Syndrome Type III and Type 1F
Walker-Warburg Syndrome

UPMC Health Plan Requirements

UPMC Health Plan requires prior authorization for the following genetic testing. Authorization should be approved based on the following indications. However, if testing is being performed based on the limitations medical necessity may not be proven.

CPT Code: 81280 Long QT Syndrome Full Gene Sequence

81281 Long QT Syndrome Known Familial Sequence Variant

81282 Long QT Syndrome Deletion/Duplication Variants

CPT Codes: Breast and Ovarian Cancer Testing

81211BRCA1/BRCA2 Gene Analysis Common Variant

81212BRCA1/BRCA2 185/5385/6174 Variants

81213BRCA1/BRCA2 Uncommon Variant

81214BRCA1 Gene Analysis Common Variants

81215BRCA1 Known Familial Variant

81216BRCA2 Gene Analysis Common Variants

81217BRCA2 Known Familial Variant

BRACAnalysis® Rearrangement Test (BART)(Myriad Genetic Laboratories, Inc., Salt Lake City, UT)

Inherited Colorectal Cancers: (HPNCC, FAP and MAP testing)

CPT Codes: Cystic Fibrosis Testing

81220CFTR Gene Analysis Common Variants

81221CFTR Known Familial Variants

81222CFTR Dup/Del Variants

81223 CFTR Full Gene Sequence

Genetic Testing for Long QT Syndrome:

In order for medical necessity to be established, adequate information must be furnished by the treating physician. Necessary information includes, but is not limited to:

Physician’s letter of medical necessity which includes supporting documentation such as patient symptoms,
QT interval per EKG and family history with clinical documentation validating diagnosis.

The Medical Management staff assigned to review obtains the clinical information according to determine if there is adequate clinical information. If the case does not meet established criteria, it is referred to a Medical Director. The Medical Director will then determine if the request service is medically necessary and appropriate. The Medical Management staff completes the review process and communicates the review decision according to the Timeliness of UM Decisions policy for the member’s benefit plan.

Indications:

QTc interval >470 msec in males and >480 msec in females
Documented history of Torsades de pointes
Presence of T-wave alternans AND notched T Waves in 3 leads
A first degree relative with a confirmed clinical diagnosis of LQTS
Members with a QTc>440 msec AND an episode of aborted sudden death without another cause (such as cardiomyopathy or MI)
Unexplained syncope and either
A QTc >450 msec for males or >460 msec for females OR
A known family member (1st or 2nd degree relative) with genetically identified LQTS

Limitations:

Members with a known cause of acquired LQTS such as drug induced, intracranial bleed or acute MI
Genetic screening for LQTS in the general population
Genetic screening to determine prognosis and/or direct therapy in patients with known LQTS
Family testing of members with genetically-proven LQTS

Molecular Susceptibility Testing for Breast Cancer and/or Ovarian (BRCA and BART Testing):

In order to assess medical necessity for BRCA testing, adequate information must be furnished by the treating physician. Necessary information includes, but is not limited to:

Physician’s letter of medical necessity to include
The physician’s evaluation of the member’s condition and
Detailed personal and family history of Breast/Ovarian and other pertinent cancers among first and second degree relatives (when applicable)
Additional information will be requested if necessary
BART test- BRCA test results in addition to the above information

Indications for BRCA1/BRAC2 Test

BRCA testing is indicated in any ONE (1) of the following situations (1-8)

Family history with known BRCA1/BRCA2 mutation (male or female)

Personal history of breast cancer (including invasive and ductal carcinoma insitu breast cancers) and at least ONE (1) of the following:

Diagnosed age ≤ 45 years old
Diagnosed age ≤ 50 years old

AND

1 close blood relative with breast cancer ≤ 50 years old

1 close blood relative with epithelial ovarian cancer, fallopian cancer, or primary peritoneal cancer

Limited family history

2 breast primaries when first breast cancer diagnosis occurred prior to age 50(2 breast primaries include bilateral diseases or cases where there are 2 or more separate ipsilateral primary tumors)
Diagnosed age < 60 yrs with triple negative breast cancer (ER neg, PR neg, HER neg)
Diagnosed at any age

AND

2 close blood relatives with breast cancer or epithelial ovarian cancer, fallopian tube cancer, or primary peritoneal cancer at any age

Close male blood relative with breast cancer
Personal history of epithelial ovarian cancer, fallopian tube cancer, or primary peritoneal cancer
Personal background of ethnicity that is associated with higher mutational frequency (e.g. founder populations of Ashkenazi Jewish, Swedish, Icelandic, Hungarian and Dutch)
Note: Testing for founder mutation(s), if available, should be performed first. Full sequencing may be considered if other HBOC criteria are met.

Personal history of epithelial ovarian cancer, fallopian tube cancer, or primary peritoneal cancer

Personal history of male breast cancer

Personal history of breast and/or ovarian cancer at any age

AND

2 close blood relatives with pancreatic cancer at any age

Personal history of pancreatic adenocarcinoma at any age

AND

2 close blood relatives with breast and/or ovarian and/or pancreatic cancer at any age

Family history only

AND

1st or 2nd degree relative who meets any of the above criteria (1-6)

3rd degree blood relative with breast cancer and/or ovarian/fallopian tube/primary peritoneal cancer

AND

2 close blood relatives with breast cancer (at least one with breast cancer ≤ 50yr and/or ovarian cancer (at least 1 with breast cancer 50 yr)

Limited family history, such as fewer than 2- 1st or 2nd degree female relatives or female relatives surviving beyond 45 year in either linage. Note: When investigating limited family history, the maternal and paternal sides should be considered separately.

Testing Family Members

Occasional, blood or tissue samples from other non-covered family members are required to provide the medical information necessary for the proper medical care of a member. Such molecular-based testing for BRCA and other specific heritable disorders in non-members will be reviewed for medical necessity when ALL of the flowing conditions are met:

The information is needed to adequately assess risk in the member

AND

The information will be used in the immediate care plan of the member

AND

The non-covered family member’s benefit plan (if any) will not cover the test and the denial is based on specific plan exclusion.

Indications for BRACAnalysis® Rearrangement Test (BART):

BART testing is indicated when the member is BRCA1/BRCA2 negative

AND

In any ONE (1) of the following situations (1-5)

Breast cancer before age 50

AND

Family history of 2 or more close blood relatives with a diagnoses of breast cancer before age 50 and/or ovarian cancer at any age

Ovarian cancer at any age

AND

Family history of 2 or more close blood relatives with a diagnoses of breast cancer before age 50 and/or ovarian cancer at any age

Male breast cancer at an age

AND

Family history of 2 or more close blood relatives with a diagnoses of breast cancer before age 50 and/or ovarian cancer at any age

Breast cancer at or after age 50 and ovarian cancer at any age

AND

Family history of 1 or more close blood relatives with breast cancer before age 50 and/or ovarian cancer at any age

Breast cancer before age 50 and ovarian cancer at any age

AND

No additional relatives are required

Limitations of BRCA1/BRCA2 and BART testing

Experimental and Investigational and therefore not covered:
BRCA testing for assessment of risk of cancers other than breast or ovarian cancers
Not medically necessary and therefore not covered:
Genetic testing in members less than 18 years old for BRCA1 and BRCA2 mutations
When BRCA testing is performed primarily for medical management of other family members that are not covered by UPMC Insurance Services Division
Members post bone marrow transplant (allogenic or autologous) should not have testing via blood or buccal samples (due to contamination of donor DNA). In these cases, DNA should be extracted from a fibroblast culture.

Genetic Testing for Inherited Colorectal Cancers: (HPNCC, FAP and MAP testing)