GTR Test Accession: Help GTR000600476.1
Last updated in GTR: 2022-10-24
Last annual review date for the lab: 2022-11-01 Past due LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Screening
Gaucher disease; Alpha mannosidosis type II; Alpha-N-acetylgalactosaminidase deficiency type 1; ...
Alpha-Mannosidase Enzyme Activity; Alpha-glucosidase; Beta-Mannosidase Enzyme Activity; Hexosaminidase A and B
Acid lipase; Alpha-N-acetylgalactosaminidase; Alpha-galactosidase; Beta-glucocerebrosidase; Beta-hexosaminidase; ...
Biochemical Genetics - Analyte: Gas chromatography–mass spectrometry (GC-MS)
Not provided
This panel should be performed in all individuals suspected of …
Not provided
Ordering Information
Offered by: Help
Centogene AG - the Rare Disease Company
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Contact Policy: Help
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: Help
Test service: Help
Enzyme Analysis
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 10
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 4
Analyte Associated Condition
Enzymes Help
Total enzymes: 6
Enzyme Associated Condition
Total methods: 1
Method Category Help
Test method Help
Instrument *
Gas chromatography–mass spectrometry (GC-MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Screening
Clinical validity: Help
This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
The interpretation of a variation as a VUS is done according to the practice guidelines provided by the American College of Medical Genetics (ACMG; ACMG recommendations for standards for interpretation and reporting of sequence variations).

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. In case of identification of mutation that can be present in non-affected family members, or after identification of highly specific genetic change, or in additional special situations we could contact the ordering again
Recommended fields not provided:
Technical Information
Test Platform:
NimbleGen CGH 3-plex ISCA Plus Cytogenetic Array
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
CENTOGENE has established stringent quality criteria and validation processes for variants detected by NGS. Variants with low sequenci ng quality and/or unclear zyg osity are confirmed by orthogonal methods. Consequently, a specificity of > 99.9% for all reported variants is warranted. Mitochondrial variants are reported for heteroplasmy levels of 15% … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Software used to interpret novel variations Help
CentoMD®, ALAMUT, integrating other programs (Polyphen-2, Mutation Tester, Alignment, ExPASy, BLAST)

Laboratory's policy on reporting novel variations Help
Centogene has a common practice to report all variants found in genetic testing, including novel and previously reported variants. A number of criteria are used to support a variant as being potentially disease-causing, including segregation with disease status in other affected family members, absence from a control population, and location … View more
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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.