skip to content »

Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Miraca Genetics Laboratories
not shown on screen

Medical Genetics Test Details

View Custom Req   |    Tests in Custom Req: 0
Search Tests: (Search by disease, test name, gene name, test code, or keyword. Return to test index.)

    Browse:  # A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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

(Click the blue dot to view test details. Red dot = current test.)
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.

C10orf2 (TWINKLE) Comprehensive - Sequence & Deletion/Duplication Analysis
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 3179
Test Includes: Sequence and Deletion/Duplication Analysis of C10orf2 gene

Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#3176) for point mutations or (#3178) for duplication and deletion analysis. Please see detailed requirements under these test codes.

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 and deletion/duplication analysis performed using a custom designed gene centric microarray.
Gene Name: C10orf2 (TWINKLE)
Protein Name: Twinkle protein, mitochondrial
Test Type: Sequence & Deletion/Duplication 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.

Turn Around Time: 28 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81404x1, 81479x1

Return to test index