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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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PDHA1 - Related Disorders tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis PDHA1 Deletion/Duplication Analysis
Test Code: 3168
Sequence & Deletion/Duplication Analysis PDHA1 Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 3169
Sequence Analysis PDHA1 Sequence Analysis
Test Code: 3165
PDHA1 Sequence Analysis
Test Code: 3166

This test can only be performed if there is a previously identified familial mutation.
PDHA1 Sequence Analysis
Test Code: 3167

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.


PDHA1 Comprehensive - Sequence & Deletion/Duplication Analysis
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 3169
Test Includes: Sequence and Deletion/Duplication Analysis of PDHA1 gene

Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#3166) for point mutations or (#3168) for duplication and deletion analysis. Please see detailed requirements under these test codes.

PDHA1 is included in the PDH and Mitochondrial Respiratory Chain Complex V Deficiency Panel (#2185).
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions and deletion/duplication analysis performed using a custom designed gene centric microarray.
Gene Name: PDHA1
Protein Name: Pyruvate dehydrogenase E1 component subunit alpha, somatic form
Test Type: Sequence & Deletion/Duplication 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: 28 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81406x1, 81405x1


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