Medical Genetics Test Details

View Custom Req | Tests in Custom Req: 0

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes and Healthcare Common Procedure Coding System (HCPCS) codes listed, are provided for informational purposes only. The codes reflect our interpretation of CPT/HCPCS coding requirements based upon AMA guidelines published annually. CPT/HCPCS codes are provided only as guidance to assist clients with billing. Baylor Genetics strongly recommends that clients confirm CPT/HCPCS codes with their Medicare Administrative Contractor (MAC) or other payer being billed, as requirements may differ. CPT coding is the sole responsibility of the billing party. Baylor Genetics assumes no responsibility for billing errors due to reliance on the CPT codes listed. Please direct any questions regarding CPT coding to the payer being billed.
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	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.

OMIM

Add to Custom Req

Print Req

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

Return to test index