Tay-Sachs Mutation Analysis (Sendout)

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

Mayo Molecular Genetics: Hereditary Custom Gene Panel Patient Information Form

Synonyms

Acetylglucosaminidase A and B Deficiency, CGPH, GM2 gangliosidosis, HEXA Mutation, Hexosaminidase A Deficiency Mutation, TSDP

Interpretation

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

Mayo Molecular Genetics: Hereditary Custom Gene Panel Patient Information Form

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

Processing

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.

Performance

LIS Dept Code

Performing Location(s)

Sendout	Mayo Clinic Laboratories 800-533-1710 200 First Street Southwest Rochester, MN 55901