CentoNCL - Clinical Genetic Test - GTR

Genetic Testing Registry

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CentoNCL

Clinical Genetic Test

offered by

Centogene AG - the Rare Disease Company

View lab's test page

GTR Test Accession: GTR000600478.1

CAP

INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more

Registered in GTR: 2022-10-24

Last annual review date for the lab: 2022-11-01 Past due

At a Glance

Test purpose:

Diagnosis; Pre-symptomatic; Screening

Conditions (1):

Neuronal ceroid lipofuscinosis

Enzymes (2):

Palmitoyl-protein thioesterase; Tripeptidyl peptidase

Methods (1):

Biochemical Genetics - Analyte: Gas chromatography–mass spectrometry (GC-MS)

Target population:

Not provided

Clinical validity:

This panel should be performed in all individuals suspected of …

Clinical utility:

Not provided

Ordering Information

Offered by:

Centogene AG - the Rare Disease Company
View lab's website
View lab's test page

Specimen Source:

Dried blood spot (DBS) card
Peripheral (whole) blood

Who can order:

Genetic Counselor
Health Care Provider
Licensed Dentist
Licensed Physician
Nurse Practitioner
Physician Assistant

Contact Policy:

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:

Order URL

Test service:

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Enzyme Analysis

Test development:

Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)

Informed consent required:

Decline to answer

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Test Order Code, Lab contact for this test, Test strategy

Conditions

Total conditions: 1

Condition/Phenotype	Identifier

Test Targets

Enzymes

Total enzymes: 2

Enzyme	Associated Condition

Methodology

Total methods: 1

Method Category

Test method

Instrument *

Analyte

Gas chromatography–mass spectrometry (GC-MS)

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis; Pre-symptomatic; Screening

Clinical validity:

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?
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?
No.

Will the lab re-contact the ordering physician if variant interpretation changes?
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:

Tests performed
Entire test performed in-house

Analytical Validity:

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?
Yes

Method used for proficiency testing:
Formal PT program

PT Provider:
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

VUS:

Software used to interpret novel variations
CentoMD®, ALAMUT, integrating other programs (Polyphen-2, Mutation Tester, Alignment, ExPASy, BLAST)

Laboratory's policy on reporting novel variations
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:

Category: FDA exercises enforcement discretion

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Consumer resources:

MedlinePlusGenetics (GHR)

NCATS Office of Rare Diseases Research (GARD)

MedlinePlus

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.