NGS Panel for Bone Marrow failure
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000611981.2
INHERITED DISEASEHEMATOLOGYIMMUNOLOGY ... View more
Last updated in GTR: 2023-09-28
Last annual review date for the lab: 2023-08-10 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Fanconi anemia complementation group A; Autism; Autism spectrum disorder; ...
ACD (16q22.1), ADA2 (22q11.1), BRCA1 (17q21.31), BRCA2 (13q13.1), BRIP1 (17q23.2), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
Lab contact: Help
Mayka Sanchez, PhD, Lab Director
msanchez@bloodgenetics.com
+(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 info@bloodgenetics.com
http://bloodgenetics.com/study-request/?lang=en
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
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:
Conditions Help
Total conditions: 56
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 69
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)
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
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 pathogenic findings
Research:
Is research allowed on the sample after clinical testing is complete? Help
In interesting cases, we perform research after clinical testing is complete and we require a research consent inform for that purpose
Recommended fields not provided:
Technical Information
Test Procedure: Help
If we found a pathogenic variation, we perform an independent analysis to confirm the finding
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
VUS:
Software used to interpret novel variations Help
Varsome

Laboratory's policy on reporting novel variations Help
Novel variations suspected to be pathogenic 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:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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