Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000593840.2
Last updated in GTR:
2021-08-24
View version history
GTR000593840.2,
last updated:
2021-08-24
GTR000593840.1,
registered in GTR:
2021-08-23
Last annual review date for the lab: 2024-06-14
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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: PCR
Target population: Help
Individuals suspected to have Krabbe Disease (galactocerebrosidase deficiency, or GALC …
Clinical validity:
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This assay tests for the most common pathogenic variant in …
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 Common Deletion
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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KDGALCCD
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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Reflex or concurrent GALC gene sequencing test available.
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
PCR
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Risk Assessment
Clinical validity:
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This assay tests for the most common pathogenic variant in the GALC gene seen in patients with Krabbe disease, which is the 30-kb deletion involving exons 11 through 17. This deletion accounts for about 45% of the pathogenic alleles in European ancestry population and about 35% of the pathogenic alleles …
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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, 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, 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). Parents or family members of individuals with known 30-kb deletion in the GALC gene.
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, 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
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
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,
PT Provider,
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.