Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
|
Invitae Comprehensive Lysosomal Storage Disorders Panel Invitae United States | 87 | 57 |
|
Invitae Lysosomal Storage Disorders Newborn Screening Panel Invitae United States | 19 | 10 |
|
Invitae Mucopolysaccharidoses Plus (MPS+) Panel Invitae United States | 38 | 27 |
|
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States | 201 | 158 |
|
IDUA Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States | 3 | 1 |
|
IDUA Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States | 3 | 1 |
|
Baylor Genetics United States | 3 | 1 |
|
Mucopolysaccharidosis Type I via the IDUA Gene PreventionGenetics, part of Exact Sciences United States | 3 | 1 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 3 | 1 |
|
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India | 376 | 317 |
|
Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain | 175 | 102 |
|
Duzen Laboratories Duzen BBAGUAS Turkey | 3 | 1 |
|
Lysosomal Disease (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States | 19 | 73 |
|
Asper Biogene Asper Biogene LLC Estonia | 16 | 11 |
|
Mucopolysaccharidoses: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 12 | 9 |
|
Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 355 |
|
Hypomyelinating Leukodystrophy NGS Panel Fulgent Genetics United States | 225 | 62 |
|
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States | 716 | 335 |
|
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.