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Results: 21 to 40 of 92

Tests names and labsConditionsGenes, analytes, and microbesMethods

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Invitae
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae NIPS for Singleton Pregnancies (chromosomes 13, 18, 21)

Invitae
United States
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cleft Lip/Cleft Palate Panel

PreventionGenetics, part of Exact Sciences
United States
177163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
360222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

DiGeorge syndrome

Genetics Service Unit National Institute of Biomedical Genomics
India
11
  • D Deletion/duplication analysis

CustomNext-Cardio®

Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CardioNext®

Ambry Genetics
United States
18992
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Proximal 22Q Gene deletion/duplication

Molecular Diagnostics Children's Hospital of Wisconsin
United States
22
  • D Deletion/duplication analysis

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
223154
  • D Deletion/duplication analysis

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

Invitae
United States
177130
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

22q11.2 Deletion/Duplication Analysis

Children's Hospital of Los Angeles, Center for Personalized Medicine
United States
51
  • D Deletion/duplication analysis

QNatal Advanced

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
1513
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Disease Panel

Invitae
United States
10755
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FISH, DiGeorge, Velocardio Facial Syndrome (VCFS)

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
21
  • M FISH-metaphase

FISH, DiGeorge, Velocardio Facial Syndrome (VCFS)

Quest Diagnostics Nichols Institute Chantilly
United States
21
  • M FISH-metaphase

Deletion 22q11.2, TUPLE1

UW Cytogenetic Services Wisconsin State Laboratory of Hygiene
United States
21
  • I FISH-interphase
  • M FISH-metaphase
  • D Deletion/duplication analysis

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • C Sequence analysis of the entire coding region

TBX1

Institute for Human Genetics University Medical Center Freiburg
Germany
41
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 92

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.