Clinical and research tests for C0406612 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
FGFR1 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Solid Tumor Panel Centogene US, LLC - The Rare Disease Company United States	218	135	C Sequence analysis of the entire coding region
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	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	342	156	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	367	178	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
Encephalocraniocutaneous lipomatosis, 613001, Somatic mosaicism; ECCL (Encephalocraniocutaneous lipomatosis) (FGFR1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Encephalocraniocutaneous lipomatosis, 613001, Somatic mosaicism; ECCL (Encephalocraniocutaneous lipomatosis) (FGFR1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
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
Invitae Osteogenesis Imperfecta and Bone Fragility Panel Invitae United States	120	65	D Deletion/duplication analysis
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain	113	37	C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Kallmann syndrome panel. 9-gene NGS panel. Genologica Medica Spain	17	9	C Sequence analysis of the entire coding region
Holoprosencephaly panel. 12-gene NGS panel. Genologica Medica Spain	27	12	C Sequence analysis of the entire coding region

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