NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)
GTR Test Accession: Help GTR000500614.4
METABOLIC DISEASEINHERITED DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2018-11-15
Last annual review date for the lab: 2023-04-13 Past due LinkOut
At a Glance
Diagnosis
Congenital hyperammonemia, type I; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency; Adenylosuccinate lyase deficiency; ...
ABCD1 (Xq28), ADSL (22q13.1), ALDH7A1 (5q23.2), APTX (9p21.1), ARG1 (6q23.2), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Multi-Gene Panel for 49 Treatable Metabolic Neurodegenerative disorders.
Not provided
Not provided
Ordering Information
Offered by: Help
Amsterdam UMC Genome Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
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
Using our website
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Test strategy: Help
Next Generation Sequencing of 60 genes. Low-coverage regions (<30 reads) are analysed by Sanger Sequencing.
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Conditions Help
Total conditions: 41
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 60
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Multi-Gene Panel for 49 Treatable Metabolic Neurodegenerative disorders.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
The 5-classes classification method (Alamut)

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test detects >99% of described mutations in the analysed genes
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations Help
Alamut (Interactive Biosoftware), including AGVGD, PolyPhen-2, SIFT and MutationTaster for missense predictions and MAXEntScan, NNSPLICE, GeneSplicer and Human Splicing Finder for splice predictions
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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