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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Miraca Genetics Laboratories
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Medical Genetics Test Details

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C10orf2 (TWINKLE) - Related Disorders tests available.

Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO3) | Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Autosomal Dominant 3 | mitochondrial DNA helicase | PEOA3 | Infantile-Onset Spinocerebellar Ataxia | C10orf2 -Related Mitochondrial DNA Depletion Syndrome Hepatocerebral Form

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis C10orf2 (TWINKLE) Deletion/Duplication Analysis
Test Code: 3178
Sequence & Deletion/Duplication Analysis C10orf2 (TWINKLE) Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 3179
Sequence Analysis C10orf2 (TWINKLE) Sequence Analysis
Test Code: 3175 		C10orf2 (TWINKLE) Sequence Analysis
Test Code: 3176

This test can only be performed if there is a previously identified familial mutation.
 		C10orf2 (TWINKLE) Sequence Analysis
Test Code: 3177

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.


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C10orf2 (TWINKLE) Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code: 3175
Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#3176). Please see detailed requirements under this test code.

C10ORF2 (TWINKLE) is included in the PEO Panel (#2140) and the mtDNA Depletion/Integrity Panel (MitomeNGS) (#2130).
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: C10orf2 (TWINKLE)
Protein Name: Twinkle protein, mitochondrial
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: 28 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81404x1


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