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Test Code CGPH Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies

Reporting Name

Custom Gene Panel, Hereditary

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Customization of existing next-generation sequencing panels offered through Mayo Clinic Laboratories

 

Detection single nucleotide and copy number variants in a custom gene panel

 

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for a hereditary condition

Method Name

Sequence Capture and Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR), Sanger Sequencing or Multiplex Ligation-Dependent Probe Amplification (MLPA)


Ordering Guidance


This test requires the creation of a unique Gene List ID that directs the laboratory to test the genes requested.

To create the required Gene List ID for your Custom Gene Panel, navigate to:

-Custom Gene Ordering Tool

-Custom Gene Ordering Tutorial

 

For answers to frequently asked questions, see Custom gene ordering on MayoClinicLabs.com.

 

Targeted testing for familial variants (also called site-specific or known mutation testing) is available under FMTT / Familial Variant, Targeted Testing, Varies. Call 800-533-1710 to obtain more information about this testing option.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Necessary Information


Molecular Genetics: Hereditary Custom Gene Panel Patient Information is strongly recommended. Testing may proceed without the patient information; however, it aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to complete the form and send it with the specimen.



Specimen Required


Specimen Type: Whole blood

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient 4 days/Refrigerated


Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Day(s) Performed

Varies

Report Available

28 to 35 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

CPT codes are based on the gene content of the custom gene panel. Refer to the Custom Gene Ordering Tool for custom gene panel specific CPT code information.

81165 (if appropriate)

81166 (if appropriate)

81167 (if appropriate)

81162 (if appropriate)

81201 (if appropriate)

81216 (if appropriate)

81223 (if appropriate)

81249 (if appropriate)

81252 (if appropriate)

81286 (if appropriate)

81292 (if appropriate)

81295 (if appropriate)

81298 (if appropriate)

81307 (if appropriate)

81319 (if appropriate)

81321 (if appropriate)

81351 (if appropriate)

81403 (if appropriate)

81404 (if appropriate)

81405 (if appropriate)

81406 (if appropriate)

81407 (if appropriate)

81408 (if appropriate)

81430 (if appropriate)

81431 (if appropriate)

81440 (if appropriate)

81443 (if appropriate)

81448 (if appropriate)

81479 (if appropriate)

81189 (if appropriate)

81419 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CGPH Custom Gene Panel, Hereditary 105259-6

 

Result ID Test Result Name Result LOINC Value
MG135 Gene List ID 48018-6
610422 Test Description 62364-5
606046 Specimen 31208-2
606047 Source 31208-2
606040 Result Summary 50397-9
606041 Result 82939-0
606042 Interpretation 69047-9
620157 Additional Results 82939-0
610423 Resources 99622-3
606043 Additional Information 48767-8
606044 Method 85069-3
610424 Genes Analyzed 48018-6
606045 Disclaimer 62364-5
606048 Released By 18771-6

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy of the consent is on file.

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Hereditary Custom Gene Panel Patient Information

3. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Neurology Specialty Testing Client Test Request (T732)

-Renal Diagnostics Test Request (T830)

-Biochemical Genetics Test Request (T798)

Testing Algorithm

Pricing for this test is based on the number of genes selected (1, 2-14, 15-49, 50-100, 101-500, and greater than 500) and their corresponding CPT codes. For more information see Custom Gene Ordering Pricing.

 

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
G145 Hereditary Custom Gene Panel Tier 1 No, (Bill Only) No
G146 Hereditary Custom Gene Panel Tier 2 No, (Bill Only) No
G147 Hereditary Custom Gene Panel Tier 3 No, (Bill Only) No
G148 Hereditary Custom Gene Panel Tier 4 No, (Bill Only) No
G149 Hereditary Custom Gene Panel Tier 5 No, (Bill Only) No
G150 Hereditary Custom Gene Panel Tier 6 No, (Bill Only) No