Clinical and research tests for 85301 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Steel syndrome, 615155, Autosomal recessive; STLS (Steel syndrome) (COL27A1 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
Steel syndrome, 615155, Autosomal recessive; STLS (Steel syndrome) (COL27A1 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
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Steel syndrome Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Steel syndrome NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Steel syndrome Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal Disorders Panel Baylor Genetics United States	1	354	C Sequence analysis of the entire coding region
GeneAware™ Expanded Panel (Female) Baylor Genetics United States	1	422	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneAware™ Expanded Panel (Male) Baylor Genetics United States	1	382	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneAware™ Expanded Plus Panel (Female) Baylor Genetics United States	1	446	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneAware™ Expanded Plus Panel (Male) Baylor Genetics United States	1	401	D Deletion/duplication analysis 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	1	104	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
COL27A1. Complete sequencing by NGS Laboratorio de Genetica Clinica SL Spain	1	1	E Sequence analysis of select exons
SHORT STATURE EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	152	E Sequence analysis of select exons
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	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
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.