Clinical and research tests for C1848599 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CancerNext® 37 Ambry Genetics United States	79	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Variant Resolution Test for CancerNext® 37 (+RNAinsight®) Ambry Genetics United States	79	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for Penn Cancer Grant Panel (+RNAinsight®) Ambry Genetics United States	79	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Penn Cancer Grant Panel Ambry Genetics United States	79	80	D Deletion/duplication analysis C Sequence analysis of the entire coding region
BRCANext-Expanded™ Ambry Genetics United States	35	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
BRCANext™ Ambry Genetics United States	35	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
VATER association with macrocephaly and ventriculomegaly, 276950, autosomal recessive (VACTERL with hydrocephalus) - VACTERL-H syndrome (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
VACTERL ASSOCIATION WITH HYDROCEPHALUS (VACTERL with hydrocephalus) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
VACTERL ASSOCIATION WITH HYDROCEPHALUS (VACTERL with hydrocephalus) (PTEN 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
VATER association with macrocephaly and ventriculomegaly, 276950, autosomal recessive (VACTERL with hydrocephalus) - VACTERL-H syndrome (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
VATER association with macrocephaly and ventriculomegaly, 276950, autosomal recessive (VACTERL with hydrocephalus) - VACTERL-H syndrome (PTEN 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
VATER association with macrocephaly and ventriculomegaly, 276950, autosomal recessive (VACTERL with hydrocephalus) - VACTERL-H syndrome (PTEN 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
Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®) Ambry Genetics United States	147	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for MelanomaNext® (+RNAinsight®) Ambry Genetics United States	40	3	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for BrainTumorNext® (+RNAinsight®) Ambry Genetics United States	72	8	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for ColoNext® (+RNAinsight®) Ambry Genetics United States	48	10	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for RenalNext® (+RNAinsight®) Ambry Genetics United States	57	7	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
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
RenalNext® Ambry Genetics United States	57	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PTEN gene sequence and deletion/duplication Ambry Genetics United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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