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Results: 21 to 40 of 96

Tests names and labsConditionsGenes, analytes, and microbesMethods

Polydactyly Panel

PreventionGenetics, part of Exact Sciences
United States
231139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Holoprosencephaly 9, 610829, Autosomal dominant; HPE9 (Holoprosencephaly) (GLI2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Holoprosencephaly 9, 610829, Autosomal dominant; HPE9 (Holoprosencephaly) (GLI2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Culler-Jones syndrome, 615849, Autosomal dominant; CJS (Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome) (GLI2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Culler-Jones syndrome, 615849, Autosomal dominant; CJS (Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome) (GLI2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Cleft Lip/Cleft Palate Panel

PreventionGenetics, part of Exact Sciences
United States
177161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Anterior Segment Dysgenesis Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
272278
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Combined Pituitary Hormone Deficiency (CPHD) Panel

PreventionGenetics, part of Exact Sciences
United States
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Septo-optic Dysplasia Spectrum Panel

PreventionGenetics, part of Exact Sciences
United States
118
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Holoprosencephaly Panel

Genetic Services Laboratory University of Chicago
United States
216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Holoprosencephaly Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
88
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Holoprosencephaly-9 (Autosomal Dominant, Nonsyndromic) via the GLI2 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

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Genomic Unity® Renal Disorders Analysis

Variantyx, Inc.
United States
1425
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

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

Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1141
  • C Sequence analysis of the entire coding region

Pituitary hormone deficiency (WES based NGS panel of 29 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
129
  • C Sequence analysis of the entire coding region

Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1104
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 96

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.