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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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Nuclear Encoded Complex I Deficiency - NDUFS5 Related tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis NDUFS5 Deletion/Duplication Analysis
Test Code: 3253
Sequence & Deletion/Duplication Analysis NDUFS5 Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 3254
Sequence Analysis NDUFS5 Sequence Analysis
Test Code: 3250
NDUFS5 Sequence Analysis
Test Code: 3251

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


NDUFS5 Sequence Analysis
(Familial Mutation/Variant Analysis)
Test Information: Confirmation of Clinical Diagnosis - Known Familial Mutation(s), Carrier Testing - Known Familial Mutation(s)
Test Details
Test Code: 3251
Test Includes: Sequencing of the region(s) containing the familial alteration(s)

Special Notes: 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.
Technical Information
Methodology: Sequencing analysis of the region(s) containing the familial alteration(s) is performed in the forward and reverse directions
Gene Name: NDUFS5
Protein Name: NADH dehydrogenase (ubiquinone) Fe-S protein 5
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Mitochondrial
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.

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


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