Clinical and research tests for C1846009 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 59

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
IMAGE syndrome, 614732, Autosomal dominant (IMAGE syndrome) (CDKN1C 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
Wilms Tumor Panel PreventionGenetics, part of Exact Sciences United States	48	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ambiguous Genitalia Panel PreventionGenetics, part of Exact Sciences United States	128	85	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Somatic Undergrowth Panel with interpretation Clinical Genomics Laboratory Washington University in St. Louis United States	5	6	C Sequence analysis of the entire coding region
CDKN1C Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Hereditary pediatric cancer panel. NGS panel of 71 genes. Genologica Medica Spain	158	71	C Sequence analysis of the entire coding region
Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel. Genologica Medica Spain	88	43	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
Beckwith-Wiedemann syndrome panel Genologica Medica Spain	20	10	C Sequence analysis of the entire coding region
Metaphyseal dysplasia panel. NGS panel of 11 genes. Genologica Medica Spain	42	11	C Sequence analysis of the entire coding region
Hereditary kidney cancer panel. NGS panel of 26 genes. Genologica Medica Spain	74	26	C Sequence analysis of the entire coding region
Genital Abnormalities / Sex Development Disorders Panel Genologica Medica Spain	95	49	C Sequence analysis of the entire coding region
Beckwith-Wiedemann syndrome panel. NGS panel of 10 genes. Genologica Medica Spain	20	10	C Sequence analysis of the entire coding region
Renal cancer Asper Biogene Asper Biogene LLC Estonia	48	25	C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Metaphyseal Dysplasia NGS Panel Fulgent Genetics United States	37	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 59

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.

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Results: 21 to 40 of 59

Results: 21 to 40 of 59