Clinical and research tests for 130070 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Ehlers-Danlos syndrome with short stature and limb anomalies, 130070, Autosomal recessive; EDSSLA (Ehlers-Danlos syndrome, progeroid type) (B4GALT7 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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Connective Tissue and Related Disorder Panel Centogene AG - the Rare Disease Company Germany	75	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Abnormal Mineralization Panel Centogene AG - the Rare Disease Company Germany	95	95	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	195	92	D Deletion/duplication analysis
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Bone Fragility and Fracture Panel PreventionGenetics, part of Exact Sciences United States	87	74	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome Comprehensive panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	8	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome NGS panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	8	12	C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	8	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome, progeroid type, Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome, progeroid type, Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome, progeroid type, NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	2	C Sequence analysis of the entire coding region T Targeted variant analysis
LowBoneDensityZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	110	50	C Sequence analysis of the entire coding region
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.