NGS panel - Neurodegeneration with brain iron accumulation
GTR Test Accession: Help GTR000529386.3
INHERITED DISEASENERVOUS SYSTEMMETABOLIC DISEASE ... View more
Last updated in GTR: 2021-01-10
Last annual review date for the lab: 2021-01-11 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Neurodegeneration with brain iron accumulation 6; Hemosiderosis, systemic, due to aceruloplasminemia; Hereditary spastic paraplegia 35; ...
ATP13A2 (1p36.13), C19orf12 (19q12), COASY (17q21.2), CP (3q24-25.1), DCAF17 (2q31.1), ...
Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Amsterdam UMC Genome Diagnostics
View lab's website
View lab's test page
Test short name: Help
LONA-NBIA
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
Lab contact: Help
Resie Vervenne, PhD, Staff
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 service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Test strategy: Help
Targeted Next-Generation sequencing
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 10
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 10
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
According CMGS guidelines

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
greater than 99 percent
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Alamut

Laboratory's policy on reporting novel variations Help
According CMGS guidelines
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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