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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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Pyruvate Dehydrogenase E3-Binding Protein (Component X) Deficiency (PDHX) tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis PDHX Deletion/Duplication Analysis
Test Code: 3923
Sequence & Deletion/Duplication Analysis PDHX Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 3924
Sequence Analysis PDHX Sequence Analysis
Test Code: 3920
PDHX Sequence Analysis
Test Code: 3921

This test can only be performed if there is a previously identified familial mutation.
PDHX Sequence Analysis
Test Code: 3922

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.


PDHX Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code: 3920
Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#3921). Please see detailed requirements under this test code.

PDHX is also 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
Gene Name: PDHX
Protein Name: PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Mitochondrial
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.

Specimen Type: Saliva
Requirements: Collected with Oragene DNA Self-Collection Kit (provided by MGL with instruction).
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: $2,800.00 *Institutional discounts may apply, please call.
CPT Codes: 81406x1


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