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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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Friedreich Ataxia (FRDA) tests available.

FRDA

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Repeat Expansion Analysis Friedreich Ataxia Repeat Expansion Analysis
Test Code: 6031
Friedreich Ataxia Repeat Expansion Analysis
Test Code: 6031
Sequence Analysis FXN Sequence Analysis
Test Code: 6365
FXN Sequence Analysis
Test Code: 6366

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


Friedreich Ataxia Repeat Expansion Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Risk Assesment- Positive Family History, Presymptomatic Testing - Known Familial Mutation(s)
Test Details
Test Code: 6031
Special Notes: Long PCR analysis across the GAA region of the FXN gene to determine allele sizes. All normal sized alleles and the vast majority of expanded alleles will be detected in this analysis. Southern analysis is used to identify extremely large GAA repeat expansions and to confirm the PCR results. Allele sizes will be reported as approximations and size ranges are subject to change as more information becomes available.
Technical Information
Methodology: Southern Blot, PCR
Gene Name: FXN
Protein Name: Frataxin, mitochondrial
Test Type: Repeat Expansion Analysis
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) 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: 81401x1


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