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Results: 1 to 20 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

Early-Onset High Myopia Panel

PreventionGenetics
United States
284135
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Invitae Limb and Digital Malformations Panel

Invitae
United States
367178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Non-Immune Hydrops Fetalis Panel

PreventionGenetics
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly and Syndactyly Panel

PreventionGenetics
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Syndactyly Panel

PreventionGenetics
United States
220128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SkeletalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
6423
  • C Sequence analysis of the entire coding region

CraniofacialZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
11045
  • C Sequence analysis of the entire coding region

Cleft Lip/Cleft Palate Panel

PreventionGenetics
United States
177163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics
United States
353206
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics
United States
15088
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypospadias Panel

PreventionGenetics
United States
15673
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Periventricular heterotopia panel

Genologica Medica
Spain
5220
  • C Sequence analysis of the entire coding region

Achondroplasia

Genologica Medica
Spain
141
  • C Sequence analysis of the entire coding region

Craniosynostosis panel. NGS panel of 37 genes.

Genologica Medica
Spain
11337
  • C Sequence analysis of the entire coding region

Central skeletal dysplasias panel. NGS panel of 111 genes.

Genologica Medica
Spain
258111
  • C Sequence analysis of the entire coding region

Micromelic dysplasia panel. NGS panel of 27 genes.

Genologica Medica
Spain
8327
  • C Sequence analysis of the entire coding region

Metaphyseal dysplasia panel. NGS panel of 11 genes.

Genologica Medica
Spain
4211
  • C Sequence analysis of the entire coding region

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
374169
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 46

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.