Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000593848.1
CAP
Last updated in GTR: 2021-08-24
View version history
GTR000593848.1, last updated: 2021-08-24
Last annual review date for the lab: 2023-07-14
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At a Glance
Test purpose:
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Diagnosis;
Risk Assessment
Conditions (2):
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Galactosylceramide beta-galactosidase deficiency; Infantile Krabbe disease
Genes (1):
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GALC (14q31.3)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis
Target population: Help
Individuals suspected to have Krabbe Disease (galactocerebrosidase deficiency, or GALC …
Clinical validity:
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This test sequences the entire coding regions of the GALC …
Clinical utility:
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Establish or confirm diagnosis;
Reproductive decision-making
Ordering Information
Offered by:
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Test short name:
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GALC Sequencing
Specimen Source:
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- Cord blood
- Fetal blood
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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KDGALCSEQ
View other test codes
View other test codes
CPT codes:
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Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.
Order URL
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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No
Test strategy:
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Concurrent testing available for GALC gene common 30-kb deletion detection for probands suspected to have Krabbe disease.
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test
Conditions
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Total conditions: 2
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Risk Assessment
Clinical validity:
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This test sequences the entire coding regions of the GALC gene by Sanger sequencing method. About 55-65% of patients with Krabbe disease have a pathogenic variant detectable by GALC gene sequencing.
Clinical utility:
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Establish or confirm diagnosis
Reproductive decision-making
View citations (2)
- Orsini JJ, Escolar ML, Wasserstein MP, Caggana M. Krabbe Disease. 2000 Jun 19 [updated 2018 Oct 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301416.
- https://www.ncbi.nlm.nih.gov/books/NBK1238
Reproductive decision-making
View citations (2)
- Orsini JJ, Escolar ML, Wasserstein MP, Caggana M. Krabbe Disease. 2000 Jun 19 [updated 2018 Oct 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301416.
- https://www.ncbi.nlm.nih.gov/books/NBK1238
Target population:
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Individuals suspected to have Krabbe Disease (galactocerebrosidase deficiency, or GALC deficiency). Individuals with whose reproductive partner is a known carrier of disease-causing variant in the GALC gene (e.g. common 30-kb deletion)
View citations (1)
- Orsini JJ, Escolar ML, Wasserstein MP, Caggana M. Krabbe Disease. 2000 Jun 19 [updated 2018 Oct 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301416.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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VUS and novel variants will be interpreted by trained variant analysis team member and a lab director using the current ACMG variant classification criteria.
VUS and novel variants will be interpreted by trained variant analysis team member and a lab director using the current ACMG variant classification criteria.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. No systemic re-evaluation of previously reported variants/findings are currently performed. However, if the same variant/finding is identified in another patient and current assessment results in change in variant classification/interpretation, then the laboratory will recontact the ordering provider and issue an updated report.
Yes. No systemic re-evaluation of previously reported variants/findings are currently performed. However, if the same variant/finding is identified in another patient and current assessment results in change in variant classification/interpretation, then the laboratory will recontact the ordering provider and issue an updated report.
Recommended fields not provided:
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical Sensitivity >99%. Analytical Specificity >99%. Accuracy/Precision >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
VUS:
Laboratory's policy on reporting novel variations
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Unusual or clinically significant novel variants will be communicated to the ordering provider via telephone call or email communication.
Unusual or clinically significant novel variants will be communicated to the ordering provider via telephone call or email communication.
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.