Gaucher Disease, DNA Mutation Analysis

Gaucher Disease, DNA Mutation Analysis

Test Code

90907
81251
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
90907
81251
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection is not available in your area through Quest Mobile.

Clinical Significance

Gaucher Disease, DNA Mutation Analysis - Gaucher Disease is an autosomal recessive lysosomal storage disease that leads to the accumulation of glucocerebroside in tissues. Approximately 1 in 10 individuals of Ashkenazi Jewish heritage is a carrier. Treatment is available that averts severe morbidity and mortality.

Test Resources

None found for this test
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Test Details

Includes

  • If amniotic fluid or chorionic villi sampling (CVS) is received, then an additional charge will be added for cell culture work (CPT code(s): 88235) if not already ordered

Methodology

Polymerase Chain Reaction (PCR) • Next Generation Sequencing

Assay Category

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Reference Range(s)

See Laboratory Report

LOINC® Codes, Performing Laboratory

Service Area must be determined
If amniotic fluid or chorionic villi sampling (CVS) is received, then an additional charge will be added for cell culture work (CPT code(s): 88235) if not already ordered

Methodology

Polymerase Chain Reaction (PCR) • Next Generation Sequencing
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Reference Range(s)

See Laboratory Report
Service Area must be determined

Preferred Specimen(s)

4 mL whole blood collected in an EDTA (lavender-top) tube

Alternative Specimen(s)

Whole blood collected in: EDTA (royal blue-top) tube, ACD (yellow-top) tube sodium, heparin (green-top) tube, or lithium heparin (green-top) tube • Bone marrow collected in: EDTA (lavender-top) tube

Fetal specimens: 10 mL amniotic fluid collected in a sterile plastic leak-proof container • Amniocyte or chorionic villus (CVS) culture cells collected in each of two sterile T25 flasks • 10 mg dissected chorionic villus (CVS) biopsy collected in a sterile tube filled with sterile culture media

Minimum Volume

3 mL whole blood • 3 mL bone marrow • 10 mL amniotic fluid • 10 mg dissected chorionic villus biopsy

Collection Instructions

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

Whole blood: Specimen stability is crucial. Store and ship at 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: 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: 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 sample arrives.

Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in a sterile tube, filled with sterile culture media. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Note: Do not reject. Forward to performing laboratory for evaluation of sample.

Transport Container

EDTA (lavender-top) tube

Transport Temperature

Room temperature

Specimen Stability

  • Whole blood and bone marrow
    Room temperature: 8 days
    Refrigerated: 8 days
    Frozen: Unacceptable

    ⁠⁠⁠⁠⁠⁠⁠Fetal specimens
    Room temperature: 48 hours
    Refrigerated: Unacceptable
    Frozen: Unacceptable

Setup Schedule

Service Area must be determined
4 mL whole blood collected in an EDTA (lavender-top) tube
Whole blood collected in: EDTA (royal blue-top) tube, ACD (yellow-top) tube sodium, heparin (green-top) tube, or lithium heparin (green-top) tube • Bone marrow collected in: EDTA (lavender-top) tube

Fetal specimens: 10 mL amniotic fluid collected in a sterile plastic leak-proof container • Amniocyte or chorionic villus (CVS) culture cells collected in each of two sterile T25 flasks • 10 mg dissected chorionic villus (CVS) biopsy collected in a sterile tube filled with sterile culture media
3 mL whole blood • 3 mL bone marrow • 10 mL amniotic fluid • 10 mg dissected chorionic villus biopsy
Do not hold specimen; forward to laboratory when specimen arrives.

Whole blood: Specimen stability is crucial. Store and ship at 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: 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: 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 sample arrives.

Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in a sterile tube, filled with sterile culture media. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Note: Do not reject. Forward to performing laboratory for evaluation of sample.
EDTA (lavender-top) tube
Room temperature
Whole blood and bone marrow
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

⁠⁠⁠⁠⁠⁠⁠Fetal specimens
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Service Area must be determined
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection is not available in your area through Quest Mobile.
Test Details

Clinical Significance

Test Resources

Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The CPT codes provided are based on AMA guidance and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

This material contains content from LOINC® (http://loinc.org). The LOINC Table, LOINC Table Core are copyright © 1995-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license.

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