Clinical and research tests for C1835820 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Variant Resolution Test for CancerNext-Expanded® (+RNAinsight®) Ambry Genetics United States	141	18	D Deletion/duplication analysis R RNA analysis 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
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics United States	150	88	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PTCH1 gene sequence and deletion/duplication Ambry Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cancer® Ambry Genetics United States	147	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CancerNext-Expanded® Ambry Genetics United States	141	77	D Deletion/duplication analysis C Sequence analysis of the entire coding region
BrainTumorNext® Ambry Genetics United States	72	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Holoprosencephaly-7 (Autosomal Dominant, Nonsyndromic) via the PTCH1 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Panel PreventionGenetics United States	10	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Holoprosencephaly panel. 12-gene NGS panel. Genologica Medica Spain	27	12	C Sequence analysis of the entire coding region
Holoprosencephaly (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	7	15	C Sequence analysis of the entire coding region
PTCH1 Gene Sequencing & Del/Dup GeneDx United States	3	1	D Deletion/duplication analysis E Sequence analysis of select exons
OncoGeneDx Custom Panel GeneDx United States	103	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PTCH1 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Cleft Palate/Lip NGS Panel Fulgent Genetics United States	127	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Gorlin Syndrome (PTCH1 Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Macrocephaly/Overgrowth Syndrome NGS Panel Fulgent Genetics United States	100	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	9	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.