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NGS Panel for Diamond-Blackfan Anemia
Clinical Genetic Test
Help
offered by
BloodGenetics
View lab's test page
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GTR Test Accession: Help GTR000560960.6
INHERITED DISEASEHEMATOLOGYPSYCHIATRIC ... View more
Last updated in GTR: 2023-09-28
View version history
Last annual review date for the lab: 2024-08-13 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (23): Help
Diamond-Blackfan anemia 1; Autism; Autism spectrum disorder more...
Genes (32): Help
ADA2 (22q11.1); GATA1 (Xp11.23); NAF1 (4q32.2); RPL10 (Xq28); RPL10A (6p21.31) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients with Diamond-Blackfan Anemia
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
BloodGenetics
View lab's website
View lab's test page
Test short name: Help
10100-Diamond-Blackfan Anemia
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Public Health Mandate
Test Order Code: Help
10100
View other test codes
Lab contact: Help
Mayka Sanchez, PhD, Lab Director
[email protected]
+(34)-636147238
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
Please write an email to [email protected]
http://bloodgenetics.com/study-request/?lang=en
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 10100
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 23
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 32
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/MiniSeq
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Patients with Diamond-Blackfan Anemia
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
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? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
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? Help
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: Help
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: Help
If we found a pathogenic variation, we perform an independent analysis to confirm the finding
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
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? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
European Molecular Genetics Quality Network, EMQN

Description of PT method: Help
Sanger Full EQA test and NGS Germline EQA Test
VUS:
Software used to interpret novel variations Help
Mutation surveyor or own pipeline for NGS

Laboratory's policy on reporting novel variations Help
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: 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.