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|
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)|
Sequencing of the region(s) containing the familial alteration(s)|
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.
- MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
- Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.
|Methodology:||Sequencing analysis of the region(s) containing the familial alteration(s) is performed in the forward and reverse directions|
|Protein Name:||MYC associated factor X|
|Test Type:||Sequence Analysis|
|Sample & Shipping Information|
|Test Requisition:||Cancer Molecular Germline|
|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|
|List Price:||*For Insurance or Institutional Prices, please call.|