Clinical and research tests for C5234852 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 49

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ALDH18A1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	4	1	D Deletion/duplication analysis
Connective Tissue Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	112	45	C Sequence analysis of the entire coding region
Cutis Laxa Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	15	8	C Sequence analysis of the entire coding region
Cutis laxa: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	12	9	C Sequence analysis of the entire coding region
Progeria Syndrome NGS Panel Fulgent Genetics United States	42	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperammonemia and Urea Cycle Disorder NGS Panel Fulgent Genetics United States	70	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Micro Syndrome NGS Panel Fulgent Genetics United States	62	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Urea Cycle Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	13	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel CeGaT GmbH Germany	22	17	C Sequence analysis of the entire coding region
Progeria syndromes Panel CeGaT GmbH Germany	20	18	C Sequence analysis of the entire coding region
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm CeGaT GmbH Germany	38	44	C Sequence analysis of the entire coding region
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm CeGaT GmbH Germany	38	44	C Sequence analysis of the entire coding region
LTBP4 mutational analysis Connective Tissue Laboratory Ghent University Hospital Belgium	14	1	E Sequence analysis of select exons
Cutis laxa gene panel Connective Tissue Laboratory Ghent University Hospital Belgium	14	11	C Sequence analysis of the entire coding region
EFEMP2 mutational analysis Connective Tissue Laboratory Ghent University Hospital Belgium	22	1	E Sequence analysis of select exons
COG7 mutational analysis Connective Tissue Laboratory Ghent University Hospital Belgium	14	1	E Sequence analysis of select exons
ATP7A mutational analysis Connective Tissue Laboratory Ghent University Hospital Belgium	14	1	E Sequence analysis of select exons
ATP6V0A2 mutational analysis Connective Tissue Laboratory Ghent University Hospital Belgium	14	1	E Sequence analysis of select exons
ELN mutational analysis Connective Tissue Laboratory Ghent University Hospital Belgium	19	1	E Sequence analysis of select exons
ALDH18A1 mutational analysis Connective Tissue Laboratory Ghent University Hospital Belgium	14	1	E Sequence analysis of select exons

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Results: 21 to 40 of 49

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.