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GATXome Plus
Clinical Genetic Test
Help
offered by
GATomics AB
GTR Test Accession: Help GTR000607932.1
NERVOUS SYSTEMINHERITED DISEASEMETABOLIC DISEASE ... View more
Registered in GTR: 2023-06-23
View version history
Last annual review date for the lab: Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Conditions (19): Help
Neurodevelopmental disorder with central hypotonia and dysmorphic facies; Houge-Janssens syndrome 3; Neurodevelopmental disorder more...
Chromosomal regions/ Mitochondria (1): Help
Chromosome 1to22, Chromosome X and Y
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
GATomics AB
View lab's website
Test short name: Help
GATXP
Specimen Source: Help
  • Buccal swab
  • Cell-free DNA
  • Dried blood spot (DBS) card
Who can order: Help
  • Genetic Counselor
Lab contact: Help
Ali Mohammed Baqer, PhD, PharmD, CGC, Lab Director
[email protected]
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.
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 Order Code, How to Order, Test strategy, Test development
Conditions Help
Total conditions: 19
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
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 novaseq 6000
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed at an outside lab

Test performance comments
Outsourced to CAP accredited Lab
Analytical Validity: Help
At GATomics, we take pride in our extensive experience and proficiency in both internal and external testing. Over the years, we've meticulously carried out Sanger sequencing on hundreds of thousands of PCR fragments, achieving an incredibly low error rate of less than 0.01%. This equates to an impressive accuracy level … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
Association for Molecular Pathology, AMP
Recommended fields not provided:
Test Confirmation, 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: Help
Category: Not Applicable
Additional Information
Consumer resources:

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.