Clinical and research tests for 300272 - Genetic Testing Registry (GTR)

Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Endeavor PathGroup United States	73	505	C Sequence analysis of the entire coding region
Hydrocephalus Panel PreventionGenetics, part of Exact Sciences United States	41	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863, X-linked dominant (X-linked dominant chondrodysplasia, Chassaing-Lacombe type) (HDAC6 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863, X-linked dominant (X-linked dominant chondrodysplasia, Chassaing-Lacombe type) (HDAC6 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1307	C Sequence analysis of the entire coding region
Skeletal Diseases Panel Mendelics Brazil	1	333	C Sequence analysis of the entire coding region
X-LINKED INTELLECTUAL DISABILITY EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	143	E Sequence analysis of select exons
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
OncoAlly™ Solid Tumor Analysis Variantyx, Inc. United States	1	433	D Deletion/duplication analysis X Mutation scanning of select exons R RNA analysis
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	19	560	C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HDAC6 Single Gene Fulgent Genetics United States	34	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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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Results: 1 to 17 of 17

Results: 1 to 17 of 17