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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

Bartter syndrome type 4a with sensorineural deafness (deletions/duplications in the BSND gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

OmniSeq INSIGHT

OmniSeq, Inc.
United States
1525
  • R RNA analysis
  • C Sequence analysis of the entire coding region

TIAF1 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MYO18A Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RB1 testing for Retinoblastoma

Impact Genetics Dynacare/LabCorp
Canada
32
  • D Deletion/duplication analysis
  • M Methylation analysis
  • X Mutation scanning of select exons
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

5-Cell Confirmation Chromosome Analysis, Tissue

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

5-Cell Confirmation Chromosome Analysis, Amniotic Fluid

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

5-Cell Confirmation Chromosome Analysis, Peripheral Blood

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Chromosome Analysis (High Resolution), Cord Blood

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Chromosome Analysis, Amniotic Fluid

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

STAT Chromosome Analysis, Peripheral Blood

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Chromosome Analysis, Tissue (Postnatal, POC, or Autopsy)

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Chromosome Analysis (High Resolution), Peripheral Blood

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Invitae Chromosomal Microarray Analysis

Labcorp Genetics (formerly Invitae) LabCorp
United States
6225
  • D Deletion/duplication analysis

Microarray Testing

Cytogenetics Laboratory SUNY Upstate Medical University
United States
1141
  • F Fluorescence in situ hybridization (FISH)

Results: 1 to 16 of 16

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.