Tay-Sachs Mutation Analysis (Sendout)

single page view

General Information

Lab Name
Lab Code
384
External Test Id
CGPH
Description

Useful For:

  • Carrier testing of individuals of Ashkenazi Jewish ancestry or who have a family history of Tay-Sachs disease
  • Determining Tay-Sachs disease carrier status for individuals with enzyme activity within the carrier or equivocal ranges
  • Prenatal diagnosis of Tay-Sachs disease for at-risk families
  • Confirmation of suspected clinical diagnosis of Tay-Sachs disease in individuals of Ashkenazi Jewish ancestry
  • Tay Sachs and Related Disorders Diagnostic Testing Algorithm

Ordering Notes: To order enzyme activity testing only, refer to test guide 445 for Hexosaminidase A and Total Hexosaminidase, Leukocytes. To order enzyme activity with reflex to mutation analysis, refer to test guide 383 (Tay Sachs Screen with reflex).

Ordering Requirements: Orders for this test must be accompanied by a completed Molecular Genetics: Hereditary Custom Gene Panel Information Form.

Forms & Requisitions
Synonyms
Acetylglucosaminidase A and B Deficiency, CGPH, GM2 gangliosidosis, HEXA Mutation, Hexosaminidase A Deficiency Mutation, TSDP
Components

Interpretation

Method

Sequence Capture and Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR), Sanger
Sequencing and/or Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reference Range
Interferences and Limitations

A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Ordering & Collection

Specimen Type
Whole Blood
Collection

3 mL blood in LAVENDER EDTA or YELLOW TOP (ACD) tube

Forms & Requisitions
Handling Instructions

Outside Laboratories:

  • Transport whole blood at ambient temperature.
  • Submit with a completed Mayo Molecular Genetics: Hereditary Custom Gene Panel Information Form.
  • Samples must arrive at Mayo within 4 days of collection (allowing for transport time from UW-MT lab to Mayo).

Stability: Ambient (Preferred) 96 hours; Refrigerated: 96 hours; Frozen: Unacceptable.

Quantity
Requested: 3 mL whole blood (EDTA or ACD)
Minimum: 1 mL whole blood (EDTA or ACD)

Processing

Receiving Instructions

Store and transport whole blood specimens at ambient temperature.

Login: GSEND1-;ROOM TEMP

  • GSNDT1: MAYO
  • GSTYP1: WB
  • GTSRQ1: ;HEXA Mutation Analysis (Mayo Test CGPH)

Sendouts:

  • Order Mayo Test: CGPH.
    • Gene List ID: IEMCP-X1WQG8 (HEXA Gene)
  • Include the completed Mayo Molecular Genetics Form. (Do not delay shipment of specimen. Okay to send with a note in MayoAccess that the form is "to follow.")
  • Whole blood specimens must be received by Mayo within 96 hours of collection.

Stability: Ambient (Preferred) 96 hours; Refrigerated: 96 hours; Frozen: Unacceptable.

Misc Sendout

Performance

Lab Department
Frequency
Performed: Varies. Report Available: 4-5 weeks.
Available STAT?
No
Performing Location(s)
Sendout Mayo Clinic Laboratories
800-533-1710

200 First Street Southwest
Rochester, MN 55901

Billing & Coding

Billing Comments

CPT: 81479