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	Prenatal Diagnosis
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.

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

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