NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) - Clinical Genetic Test - GTR

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NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA)

Clinical Genetic Test

offered by

BloodGenetics

View lab's test page

GTR Test Accession: GTR000560962.6

INHERITED DISEASENERVOUS SYSTEMMETABOLIC DISEASE ... View more

Last updated in GTR: 2023-09-28

Last annual review date for the lab: 2023-08-10

At a Glance

Test purpose:

Diagnosis

Conditions (39):

Neurodegeneration with brain iron accumulation; Autosomal recessive Kenny-Caffey syndrome; Bardet-Biedl syndrome 11; ...

Genes (33):

AP4M1 (7q22.1), ATL1 (14q22.1), ATP13A2 (1p36.13), C19orf12 (19q12), COASY (17q21.2), ...

Methods (1):

Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)

Target population:

Patients with Neurodegeneration with Brain Iron Accumulation Disorders (NBIA)

Clinical validity:

Not provided

Clinical utility:

Establish or confirm diagnosis

Ordering Information

Offered by:

BloodGenetics
View lab's website
View lab's test page

Test short name:

10120- Neurodegeneration with Brain Iron Accumulation Disorders

Specimen Source:

Bone marrow
Isolated DNA
Peripheral (whole) blood
Plasma
Saliva
Serum
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
Licensed Physician
Public Health Mandate

Test Order Code:

10120
View other test codes

Lab contact:

Mayka Sanchez, PhD, Lab Director
msanchez@bloodgenetics.com
+(34)-636147238

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:

Please write an email to info@bloodgenetics.com
http://bloodgenetics.com/study-request/?lang=en
Order URL

Test service:

Clinical Testing/Confirmation of Mutations Identified Previously
OrderCode: 10120

Test additional service:

Custom mutation-specific/Carrier testing

Test development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Yes

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Test strategy

Conditions

Total conditions: 39

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 33

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument

Sequence analysis of the entire coding region

Next-Generation (NGS)/Massively parallel sequencing (MPS)

Illumina MiSeq/MiniSeq

Clinical Information

Test purpose:

Diagnosis

Clinical utility:

Establish or confirm diagnosis

View citations (1)

https://www.ncbi.nlm.nih.gov/books/NBK121988/

Target population:

Patients with Neurodegeneration with Brain Iron Accumulation Disorders (NBIA)

Variant Interpretation:

What is the protocol for interpreting a variation as a VUS?
Practice guidelines for the Interpretation and Reporting of Unclassified Variants (UVs) in Clinical Molecular Genetics. Prepared and edited by Jennie Bell, Danielle Bodmer, Erik Sistermans and Simon C Ramsden

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. We systematically (every 6-8 months) re-evaluated the data and re-contact the physician in case of new findings

Research:

Is research allowed on the sample after clinical testing is complete?
Research is done after clinical test is complete for novel mutations. Informed consent for research is required.

Recommended fields not provided:

Clinical validity, Sample negative report, Sample positive report

Technical Information

Test Procedure:

All coding exons, 50 bp of flanking intronic sequence and at least 100bp of untranslated regions are enriched using Haloplex HS custom targeted protocol (Agilent), followed by high throughput sequencing (Illumina). Sequence variants changes are assessed and interpreted using commercial software combined with public and our own expert database. All … View more

Test Confirmation:

If we found a pathogenic variation, we perform an independent analysis to confirm the finding

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

99.9%. If we found a pathogenic variation, we perform an independent analysis to confirm the finding

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Inter-Laboratory

PT Provider:
European Molecular Genetics Quality Network, EMQN

Description of PT method:
Sanger Full EQA test and NGS Germline EQA Test

VUS:

Software used to interpret novel variations
Mutation surveyor or own pipeline for NGS

Laboratory's policy on reporting novel variations
Novel variations suspected to be patogenic are included in the routine reports. VUS are also reported. Non pathogenic variations are NOT reported as well as VUS with MAF>3%

Recommended fields not provided:

Assay limitations, Description of internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Not provided

Additional Information

Reviews:

Genereviews

PubMed Clinical Queries

Clinical resources:

Consumer resources:

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.