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Metabolic disease with epilepsy panel
Clinical Genetic Test
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offered by
Genome Diagnostics Laboratory
GTR Test Accession: Help GTR000509408.1
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Registered in GTR: 2014-01-14
View version history
Last annual review date for the lab: 2024-10-04 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (29): Help
Pyridoxine-dependent epilepsy; Adenylosuccinate lyase deficiency; Adult neuronal ceroid lipofuscinosis more...
Genes (24): Help
ADSL (22q13.1); ALDH7A1 (5q23.2); AMT (3p21.31); CLN3 (16p12.1); CLN5 (13q22.3) more...
Methods (2): Help
Molecular Genetics - Sequence analysis of select exons: Uni-directional Sanger sequencing; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genome Diagnostics Laboratory
View lab's website
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Lab contact: Help
JK Ploos van Amstel, PhD, Lab Director
[email protected]
+31 887553810
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.
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:
Test Order Code, How to Order, Test strategy, Test development
Conditions Help
Total conditions: 29
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 24
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of select exons
Uni-directional Sanger sequencing
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sequencing is performed at an average coverage of at least 100x, aiming at a minimum coverage of 15x per base (vertical coverage >15x) for at least 98% of the coding sequence and flanking intron-exon boundaries (horizontal coverage >98%). The test is greater than 99% sensitive for detecting substitution variants in … View more
View citations (2)
  • Weiss MM, Van der Zwaag B, Jongbloed JD, Vogel MJ, Brüggenwirth HT, Lekanne Deprez RH, Mook O, Ruivenkamp CA, van Slegtenhorst MA, van den Wijngaard A, Waisfisz Q, Nelen MR, van der Stoep N. Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories. Hum Mutat. 2013;34(10):1313-21. doi:10.1002/humu.22368. Epub 2013 Aug 19. PMID: 23776008.
  • Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, van Zon P, van Lieshout S, Elferink MG, van der Burg M, Vermont CL, van der Zwaag B, Janson E, Cuppen E, Ploos van Amstel JK, van Gijn ME. Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. J Allergy Clin Immunol. 2014;133(2):529-34. doi:10.1016/j.jaci.2013.08.032. Epub 2013 Oct 15. PMID: 24139496.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
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.