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Test Directory » Tay-Sachs Disease Mutation Analysis

Tay-Sachs Disease Mutation Analysis

Order Code: TAYSAC

Test Summary

This test is used to identify individuals who are carriers of a TSD mutation. It will also confirm a diagnosis of TSD by identifying those individuals who have two TSD mutations. By testing for Pseudodeficiency Alleles, this assay will identify individuals who have been erroneously identified as carriers, due to false-positive result in the standard enzyme assay for beta-N-acetylhexosaminidase activity.

Aliases

  • N/A

Specimen Collection

Special Instructions

N/A

Preferred Specimen

4 mL whole blood collected in an EDTA (lavender-top) tube, EDTA (royal blue-top) tube, ACD (yellow-top) tube, or sodium or lithium heparin (green-top) tube

Minimum Volume

3 mL whole blood • 10 mL amniotic fluid • 10 mg CVS

Instructions

Do not hold specimen; forward to laboratory when specimen arrives.

Whole blood (preferred): Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.

For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission;
2) Documentation of parental carrier status must be provided;
3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.

Amniotic fluid (acceptable): Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.
Dissected Chorionic Villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.


Patient Preparation

N/A

Storage

N/A

Transport Temperature

Room temperature

Specimen Stability

  • Whole blood (preferred):
  • Room temperature: 8 days
  • Refrigerated: 8 days
  • Frozen: Unacceptable
  • All other specimens
  • Room temperature: 48 hours
  • Refrigerated: Unacceptable
  • Froz

Limitations

N/A

Other Acceptable Specimens

Bone marrow collected in EDTA (lavender-top) tube • 10 amniotic fluid collected in sterile leak-proof container • Cultured cells collected in each (x2) sterile T-25 flasks, 75% confluent • 10 mg chorionic villi collected in a sterile tube filled with sterile culture media

Unacceptable Specimens

Do not reject

Order Code

TAYSAC

EPIC (Premier) Code

LAB3326

Includes

N/A

CPT Code

  • 81255

Billing Code

  • 671039

CPT Statement

CPT Statement

Methodology

Polymerase Chain Reaction (PCR) • Next Generation Sequencing

FDA Status

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Testing Laboratory

Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano CA, 92675

Department

Reference Testing

Reference Range

See Laboratory Report

Setup Schedule / Expected Turnaround Time

Monday, Saturday; Report available: 10 - 16 days

Specimen Collection

Special Instructions

N/A

Preferred Specimen

4 mL whole blood collected in an EDTA (lavender-top) tube, EDTA (royal blue-top) tube, ACD (yellow-top) tube, or sodium or lithium heparin (green-top) tube

Minimum Volume

3 mL whole blood • 10 mL amniotic fluid • 10 mg CVS

Instructions

Do not hold specimen; forward to laboratory when specimen arrives.

Whole blood (preferred): Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.

For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission;
2) Documentation of parental carrier status must be provided;
3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.

Amniotic fluid (acceptable): Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.
Dissected Chorionic Villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.


Patient Preparation

N/A

Storage

N/A

Transport Temperature

Room temperature

Specimen Stability

  • Whole blood (preferred):
  • Room temperature: 8 days
  • Refrigerated: 8 days
  • Frozen: Unacceptable
  • All other specimens
  • Room temperature: 48 hours
  • Refrigerated: Unacceptable
  • Froz

Limitations

N/A

Other Acceptable Specimens

Bone marrow collected in EDTA (lavender-top) tube • 10 amniotic fluid collected in sterile leak-proof container • Cultured cells collected in each (x2) sterile T-25 flasks, 75% confluent • 10 mg chorionic villi collected in a sterile tube filled with sterile culture media

Unacceptable Specimens

Do not reject

Billing

CPT Code

  • 81255

Billing Code

  • 671039

CPT Statement

CPT Statement

Result Information

Methodology

Polymerase Chain Reaction (PCR) • Next Generation Sequencing

Testing Laboratory

N/A

Reference Range

See Laboratory Report

Setup Schedule / Expected Turnaround Time

Monday, Saturday; Report available: 10 - 16 days