NGS Panel for Hereditary Hemolytic Anemias due to red blood cell enzymopathies or Glycogen storage disease - Clinical Genetic Test - GTR

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Clinical Genetic Test

offered by

BloodGenetics

View lab's test page

GTR Test Accession: GTR000611984.2

INHERITED DISEASEHEMATOLOGYMETABOLIC DISEASE ... View more

Last updated in GTR: 2023-09-28

Last annual review date for the lab: 2024-08-13

At a Glance

Test purpose:

Diagnosis; Mutation Confirmation

Conditions (12):

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency; Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene; Glutamate-cysteine ligase deficiency more...

Genes (17):

ADA (20q13.12); AK1 (9q34.11); ALDOA (16p11.2); BPGM (7q33); CYB5R3 (22q13.2) more...

Methods (1):

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

Target population:

Not provided

Clinical validity:

Not provided

Clinical utility:

Establish or confirm diagnosis

Ordering Information

Offered by:

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

Who can order:

Health Care Provider

Test Order Code:

10061
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 development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Decline to answer

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Specimen source, Test strategy

Conditions

Total conditions: 12

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 17

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)

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis; Mutation Confirmation

Clinical utility:

Establish or confirm diagnosis

View citations (1)

http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=13886&Disease_Disease_Search_diseaseGroup=c15orf41&Disease_Disease_Search_diseaseType=Gen&Disease(s)/group%20of%20diseases=Congenital-dyserythropoietic-anemia-type-I&title=Congenital-dyserythropoietic-anemia-type-I&search=Disease_Search_Simple

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 pathogenic findings

Research:

Is research allowed on the sample after clinical testing is complete?
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:

Clinical validity, Target population, Sample negative report, Sample positive report

Technical Information

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

VUS:

Software used to interpret novel variations
Varsome

Laboratory's policy on reporting novel variations
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:

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

Regulatory Approval

FDA Review:

Not provided

Additional Information

Reviews:

Genereviews

PubMed Clinical Queries

Clinical resources:

Molecular resources:

View ADA variations in ClinVar

RefSeqGene

Coriell Institute for Medical Research

Consumer resources:

MalaCards

MedlinePlusGenetics (GHR)

NCATS Office of Rare Diseases Research (GARD)

MedlinePlus

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