GTR Test Accession:
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GTR000600668.1
CAP
Last updated in GTR: 2022-11-02
View version history
GTR000600668.1, last updated: 2022-11-02
Last annual review date for the lab: 2022-11-01
Past due
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At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic;
Screening
Conditions (13):
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Gaucher disease; Alpha mannosidosis type II; Alpha-N-acetylgalactosaminidase deficiency type 1; ...
Analytes (9):
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Alpha-L-Iduronidase; Alpha-Mannosidase Enzyme Activity; Alpha-glucosidase; Arylsulfatase B; Beta-Galactosidase Activity; ...
Whole exome|Mitochondrial genome
Enzymes (9):
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Acid lipase; Alpha-N-acetylgalactosaminidase; Alpha-galactosidase; Beta-glucocerebrosidase; Beta-hexosaminidase; ...
Methods (4):
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Biochemical Genetics - Analyte: Gas chromatography–mass spectrometry (GC-MS); ...
Target population: Help
Not provided
Clinical validity:
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For many patients, the differential diagnosis is too broad to …
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Dried blood spot (DBS) card
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
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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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Enzyme Analysis
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Enzyme Analysis
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
Test strategy:
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Whole exome with CNV and mtDNA analysis + automatic refles to enzyme analysis for related diseases if variant is identified.
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Lab contact for this test
Conditions
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Total conditions: 13
Condition/Phenotype | Identifier |
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Test Targets
Analytes
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Total analytes: 9
Analyte | Associated Condition |
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Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion | Associated condition |
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Enzymes
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Total enzymes: 9
Enzyme | Associated Condition |
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Methodology
Total methods: 4
Method Category
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Test method
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Instrument *
Analyte
Gas chromatography–mass spectrometry (GC-MS)
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Uniparental disomy study (UPD)
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic;
Screening
Clinical validity:
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For many patients, the differential diagnosis is too broad to allow for testing a specific disorder or group of disorders with high certainty. Therefore, sequencing the complete coding region, i.e. the whole exome, is recommended. We particularly recommend whole exome sequencing for patients with: epilepsy; neurodevelopmental disorders; bone diseases; metabolic …
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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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).
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?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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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
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:
Clinical utility,
Target population,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Platform:
NimbleGen CGH 3-plex ISCA Plus Cytogenetic Array
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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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% …
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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
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations
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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
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:
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:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.