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

Results: 1 to 15 of 15

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471, Autosomal recessive; SAMS (Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome) (GSC gene) (Sequence Analysis-All Coding Exons Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471, Autosomal recessive; SAMS (Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome) (GSC gene) (Sequence Analysis-All Coding Exons 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
Skeletal Disorders Panel Baylor Genetics United States	1	354	C Sequence analysis of the entire coding region
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	C Sequence analysis of the entire coding region
Bone diseases panel_v.2.0 CGC Genetics Unilabs Portugal	1	662	C Sequence analysis of the entire coding region
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
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
Short Stature Genetics Laboratory University of Oklahoma Health Sciences Center United States	1	86	C Sequence analysis of the entire coding region
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel CeGaT GmbH Germany	18	19	C Sequence analysis of the entire coding region
GSC Single Gene Fulgent Genetics United States	1	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 15 of 15

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 15 of 15

Results: 1 to 15 of 15