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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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MAX-Related Disorders tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Sequence Analysis MAX Sequence Analysis
Test Code: 9090
MAX Sequence Analysis
Test Code: 9091

This test can only be performed if there is a previously identified familial mutation.


MAX Sequence Analysis
(Familial Mutation/Variant Analysis)
Test Information: Confirmation of Clinical Diagnosis - Known Familial Mutation(s)
Test Details
Test Code: 9091
Test Includes: Sequencing of the region(s) containing the familial alteration(s)

Special Notes: MAX gene encodes a protein that is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. Recent studies have shown that MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

This test can only be performed if there is a previously identified familial mutation. A laboratory report containing the relative's mutation information, the specific biological relationship of this patient and the tested relative and the clinical status of this patient (symptomatic or asymptomatic) must be submitted with the specimen. If the original familial mutation was identified in another laboratory, this testing must be discussed with one of our genetic counselors prior to sending a specimen.

Useful Publications:
- MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
- Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.
Technical Information
Methodology: Sequencing analysis of the region(s) containing the familial alteration(s) is performed in the forward and reverse directions
Gene Name: MAX
Protein Name: MYC associated factor X
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Cancer Molecular Germline
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tubes and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x1


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