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Results: 1 to 20 of 199

Tests names and labsConditionsGenes, analytes, and microbesMethods

Breast & Ovarian Cancer, Familial (BRCA1 & BRCA2)

Center for Human Genetics, Inc
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SNP Microarray

Center for Human Genetics, Inc
United States
11
  • D Deletion/duplication analysis

PALB2 (PARTNER AND LOCALIZER OF BRCA2

Center for Human Genetics, Inc
United States
21
  • C Sequence analysis of the entire coding region

SCN9A, Sodium Voltage-Gated Channel Alpha Subunit 9

Center for Human Genetics, Inc
United States
41
  • C Sequence analysis of the entire coding region

CTRC-Related Hereditary Pancreatitis

Center for Human Genetics, Inc
United States
11
  • C Sequence analysis of the entire coding region

PRSS1-Related Hereditary Pancreatitis

Center for Human Genetics, Inc
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ADGRG2, Adhesion G Protein-coupled Receptor G2

Center for Human Genetics, Inc
United States
11
  • C Sequence analysis of the entire coding region

MED12-Related Disorders

Center for Human Genetics, Inc
United States
11
  • C Sequence analysis of the entire coding region

Noonan Syndrome 11-Gene Sequencing Panel

Center for Human Genetics, Inc
United States
111
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders 22-gene panel

Center for Human Genetics, Inc
United States
1822
  • C Sequence analysis of the entire coding region

Intestinal Pseudo-Obstruction (ACTG2)

Center for Human Genetics, Inc
United States
11
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders 53-Gene Panel

Center for Human Genetics, Inc
United States
153
  • C Sequence analysis of the entire coding region

Ashkenazi Jewish Carrier Screening Panel

Center for Human Genetics, Inc
United States
118
  • T Targeted variant analysis

Visceral Myopathy (ACTG2)

Center for Human Genetics, Inc
United States
11
  • C Sequence analysis of the entire coding region

Cri-du-Chat Syndrome (5p Deletion Syndrome)

Center for Human Genetics, Inc
United States
11
  • M FISH-metaphase

Sex Reveral, Type 1 46,XY

Center for Human Genetics, Inc
United States
11
  • I FISH-interphase
  • M FISH-metaphase

Testicular disorder of sex development 46,XX

Center for Human Genetics, Inc
United States
11
  • I FISH-interphase
  • M FISH-metaphase

Phelan-McDermid Syndrome (22q13.3 Deletion Syndrome)

Center for Human Genetics, Inc
United States
11
  • M FISH-metaphase

Smith-Magenis Syndrome (17p11.2 Deletion Syndrome)

Center for Human Genetics, Inc
United States
11
  • M FISH-metaphase

Mental Retardation With Language Impairment, With Or Without Autistic Features, FOXP1

Center for Human Genetics, Inc
United States
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 199

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.