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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Brain Malformations Panel

Invitae
United States
247161
  • D Deletion/duplication analysis

Autosomal Dominant, Non-Syndromic Holoprosencephaly via the GAS1 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Panel

PreventionGenetics, part of Exact Sciences
United States
1014
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

HOLOPROSENCEPHALY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
118
  • E Sequence analysis of select exons

Amelogenesis

Bioarray
Spain
1172
  • C Sequence analysis of the entire coding region

Comprehensive Holoprosencephaly Panel

GeneDx
United States
217
  • 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

EpiXpanded Panel

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

Holoprosencephaly: gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
114
  • C Sequence analysis of the entire coding region

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
72536
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Holoprosencephaly

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
413
  • C Sequence analysis of the entire coding region

Comprehensive Brain Malformation Panel

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
36106
  • C Sequence analysis of the entire coding region

GAS1 Single Gene

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

Holoprosencephaly

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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.