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Results: 1 to 20 of 38

Tests names and labsConditionsGenes and analytesMethods

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Holoprosencephaly 3

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Holoprosencephaly Panel, Nonsyndromic Sequencing and Deletion/Duplication, 11 Genes

ARUP Laboratories, Molecular Genetics and Genomics
United States
611
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SHH. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Holoprosencephaly-3 (Autosomal Dominant Nonsyndromic) via the SHH Gene

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

Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel

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

Epilepsy Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
234234
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations

Athena Diagnostics Inc
United States
4340
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy and Seizure Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
164107
  • D Deletion/duplication analysis

Holoprosencephaly Type 3 , Deletions-Duplications (MLPA) SHH Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Holoprosencephaly Type 3 , Sequencing SHH Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

Invitae Microphthalmia/Anophthalmia Disorders Panel

Invitae
United States
3115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Holoprosencephaly Panel

Invitae
United States
65
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Holoprosencephaly 3: SHH gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

Holoprosencephaly type 3

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

Holoprosencephaly (deletion/duplication analysis on SHH gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

Single gene testing SHH

CeGaT GmbH
Germany
41
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 38

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.

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