Clinical and research tests for C0432283 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
FGFR1 Gene Sequencing GENETIX Centro de Investigación en Genética Humana y Reproductiva Colombia	6	2	C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FGFR1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hypogonadotropic Hypogonadism Panel Invitae United States	67	46	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics United States	345	159	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Polydactyly and Syndactyly Panel PreventionGenetics United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteoglophonic dysplasia, 166250, Autosomal dominant; OGD (Osteoglophonic dwarfism) (FGFR1 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
Osteoglophonic dysplasia, 166250, Autosomal dominant; OGD (Osteoglophonic dwarfism) (FGFR1 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
Osteoglophonic dysplasia, 166250, Autosomal dominant; OGD (Osteoglophonic dwarfism) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Osteoglophonic dysplasia, 166250, Autosomal dominant; OGD (Osteoglophonic dwarfism) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Syndactyly Panel PreventionGenetics United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SkeletalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	64	23	C Sequence analysis of the entire coding region
CraniofacialZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	45	C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Cleft Lip/Cleft Palate Panel PreventionGenetics United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Limb Malformation Panel PreventionGenetics United States	78	75	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.