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Results: 21 to 40 of 55

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Cornelia de Lange Syndrome and Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4431
  • D Deletion/duplication analysis

Neurodevelopmental Disorders Panel

Baylor Genetics
United States
1236
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • C Sequence analysis of the entire coding region

Clefting (WES based NGS panel of 231 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1231
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders Panel

CGC Genetics Unilabs
Portugal
1107
  • C Sequence analysis of the entire coding region

Transposition of the great arteries , Mental retardation and distinctive facial features with or without cardiac defects (sequence analysis of MED13L gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Transposition of the great arteries Mental retardation and distinctive facial features with or without cardiac defects (deletion/duplication analysis of MED13L gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

HEREDITARY ATAXIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
11202
  • E Sequence analysis of select exons

EPILEPSY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1696
  • E Sequence analysis of select exons

MED13L. Complete sequencing by NGS

Laboratorio de Genetica Clinica SL
Spain
11
  • E Sequence analysis of select exons

SUDDEN DEATH/ IDIOPATHIC VENTRICULAR FIBRILLATION EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1394
  • E Sequence analysis of select exons

MED13L. Complete sequencing by NGS

Laboratorio de Genetica Clinica SL
Spain
11
  • E Sequence analysis of select exons

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

MED13L Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephaly Xpanded Panel

GeneDx
United States
1877
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia Xpanded Panel

GeneDx
United States
1999
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism/ID Panel

GeneDx
United States
2104
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 55

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.