Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
KPTN Gene Mental retardation, autosomal recessive type 41 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
KPTN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 777 | 770 |
|
Invitae Overgrowth Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 96 | 53 |
|
Genetic Services Laboratory University of Chicago United States | 6 | 216 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States | 145 | 112 |
|
Genetic Services Laboratory University of Chicago United States | 26 | 68 |
|
Non-Specific Intellectual Disability Panel Genetic Services Laboratory University of Chicago United States | 6 | 216 |
|
Autosomal Recessive Non-Specific Intellectual Disability Panel Genetic Services Laboratory University of Chicago United States | 1 | 54 |
|
Baylor Genetics United States | 1 | 397 |
|
CGC Genetics Unilabs Portugal | 1 | 759 |
|
CGC Genetics Unilabs Portugal | 1 | 1307 |
|
CGC Genetics Unilabs Portugal | 1 | 662 |
|
Mental retardation, autosomal recessive 41 (sequence analysis of KPTN gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Mental retardation, autosomal recessive 41 (deletion/duplication analysis of KPTN gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
MACROCEPHALY AND OVERGROWTH SYNDROMES EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 80 |
|
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.