Ordering Tests Manually
Congenital Inherited Disease
| 88870 | Age-Related Macular Degeneration, Risk Analysis, Y402H & A69S |
| 83050 | Alpha-1-Antitrypsin Deficiency |
| 9499 | Alpha Thalassemia |
| 83667 | Amyloidosis, Transthyretin-Associated Familial, DNA Sequence |
| 83705 | Amyloidosis, Transthyretin-Associated Familial Known Mutation* |
| 80905 | Apolipoprotein E (Hyperlipidemia only) |
| 88911 | Autosomal Recessive Polycystic Kidney Disease, Full Gene Analysis |
| 88912 | Autosomal Recessive Polycystic Kidney Disease, Known Mutation* |
| 83278 | Beckwith-Wiedemann Methylation Analysis |
| 9497 | Cystic Fibrosis, Mutation Analysis, 70-Mutation Panel |
| 88876 | CFTR Gene, Full Gene Analysis (DNA sequencing and large del/dup) |
| 88880 | CFTR Gene, Known Mutation* |
| 81801 | Dentatorubral-Pallidoluysian Atrophy (DRPLA) |
| 89308 | FBN1, Full Gene Sequence |
| 89311 | FBN1 Gene, Known Mutation* |
| 9569 | Fragile X Syndrome, Molecular Analysis |
| 80297 | Hemophilia A Inversion Analysis |
| 81508 | Hereditary Hemochromatosis |
| 83019 | Hereditary Pancreatitis Mutation Screen (Cationic trypsinogen gene only) |
| 88691 | Hereditary Pancreatitis, Known Mutation* |
| 87924 | MAPT Gene, Sequence Analysis, 7 Exon Screening Panel |
| 87925 | MAPT Known Mutation |
| 89284 | MECP2 Gene, Full Gene Analysis (DNA sequencing and large del/dup) |
| 89285 | MECP2 Gene, Known Mutation |
| 81252 | Multiples-Fraternal/Identical determination (Zygosity testing) See MML test catalog. Specimen required from both parents. |
| 89314 | Neonatal Marfan Syndrome, FBN1 Gene FBN1 exons 24-33 only |
| 81153 | Prader Willi/Angelman Syndrome, Molecular Analysis |
| 89188 | Progranulin Gene, Full Gene Analysis |
| 89187 | Progranulin Gene, Known Mutation |
| 82971 | Specimen Identification |
| 81176 | Spinobulbar Muscular Atrophy (Kennedy Disease), Molecular Analysis |
| 82970 | Uniparental Disomy (UPD) Chromosome of interest must be specified for processing. Specimen required from both parents. |
| 82992 | Y Chromosome Microdeletions, Molecular Detection (AZFa, AZFb, AZFc) |
Inherited Cancer Syndromes
Germline |
|
| 82582 | FAP Mutation Screen (DNA seq exons 1-14, PTT exon 15 and large del/dup) |
| 83001 | FAP Known Mutation |
| 84304 | MYH Gene Analysis for Multiple Adenoma, Y165C and G382D |
| 80573 | MEN2 Mutation Screen (DNA seq exons 10, 11, 13-16) |
| 81082 | MEN2 Known Mutation |
| 83015 | MLH1 Mutation Screen (DNA sequencing and large del/dup) |
| 83002 | MLH1 Known Mutation |
| 83016 | MSH2 Mutation Screen (DNA sequencing and large del/dup) |
| 83082 | MSH2 Known Mutation |
| 83191 | MLH1/MSH2 Mutation Screen (DNA sequencing and large del/dup) |
| 83723 | MSH6 Mutation Screen (DNA sequencing and large del/dup) |
| 83706 | MSH6 Known Mutation |
| 89083 | VHL Full Gene Analysis (DNA sequencing with reflex to deletion detection) |
| 89211 | VHL Deletion Detection |
| 82084 | VHL Known Mutation |
Tumor Analysis |
|
| 87980 | BRAF Mutation Analysis (V600E), Tumor |
| 17073 | HNPCC Screen Includes Microsatellite Instability and Immunohistochemistry of MLH1, MSH2, MSH6, PMS2 |
| 89378 | KRAS Gene, 7 Mutation Panel, Tumor |
| 88566 | Microsatellite Instability (MSI only) |
| 87978 | MLH1 hypermethylation Analysis, Tumor |
| 87931 | MLH1 hypermethylation/BRAF If ordered with HNPCC screen, testing will only be performed if clinically indicated. |
| 29004 | MMR Protein, IHC only Tumor |
Molecular Analysis for Biochemical Disorders
| 83643 | Alanine-glyoxylate aminotransferase (AGXT), Molecular Analysis Test for pyridoxine responsiveness in Primary Hyperoxyluria Type 1 |
| 86329 | Ashkenazi Jewish Mutation Analysis Panel With Cystic Fibrosis - ACD Blood only Panel includes Canavan, cystic fibrosis, Gaucher, Tay-Sachs (enzyme and molecular), familial dysautonomia, Niemann Pick A & B, Bloom syndrome, Fanconi Anemia type C, mucolipidosis IV. To order any test separately, contact lab. |
| 88887 | Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis - ACD Blood only Panel includes all disorders listed with 86329 (above) except cystic fibrosis |
| 89012 | Biotinidase Deficiency, Full Gene Analysis |
| 89013 | Biotinidase Deficiency, Known Mutation |
| 83817 | CASR Mutation Screen, Biochemical and Genetic |
| 83703 | CASR Mutation Screen |
| 83704 | CASR Known Mutation |
| 89081 | CYP21A2 Full Gene Analysis |
| 89082 | CYP21A2 Known Mutation |
| 88264 | Fabry Disease, Full-Gene Analysis |
| 88266 | Fabry Disease, Known Mutation |
| 83375 | FH/ADH Genetic Reflex Panel APOB genotype with reflex to LDLR sequencing and LDLR large del/dup |
| 84360 | Galactosemia Confirmation Test Includes biochemical testing with molecular reflex when indicated. Preferred first-tier molecular test for carrier screening or diagnosis. |
| 88877 | GALT Gene, Full Gene Analysis |
| 84367 | Galactosemia Known Mutation |
| 83644 | Isovaleryl-CoA Dehydrogenase (IVD) Mutation Analysis (A282V) |
| 81013 | LDLR Full Gene Sequence |
| 81183 | LDLR Gene, Known Mutation |
| 83923 | Medium Chain Acyl CoA Dehydrogenase (MCAD) Deficiency, DNA Sequencing |
| 83934 | Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, Known Mutation |
| 89436 | Methylmalonic Aciduria and Homocystinuria, cblC Type, Full Gene Analysis |
| 89135 | Methylmalonic Aciduria and Homocystinuria, cblC Type, Known Mutation |
| 89015 | Niemann-Pick Type C, Full Gene Analysis |
| 83118 | Niemann-Pick Type C Disease, Known Mutation |
| 83939 | Short Chain Acyl CoA Dehydrogenase (SCAD) Deficiency, DNA Sequencing |
| 83947 | Short Chain Acyl CoA Dehydrogenase (SCAD) Deficiency, Known Mutation |
| 82943 | Tay-Sachs Disease (TSD), Hexosaminidase A, Molecular Reflex Includes Biochemical testing with reflex to 7 mutation panel when indicated |
| 89278 | Tay-Sachs Disease, HEXA Gene, Full Gene Analysis |
| 89283 | Tay-Sachs Disease, HEXA Gene, Known Mutation |
| 83697 | Wilson Disease Mutation Screen (DNA sequence analysis) |
| 83698 | Wilson Disease, Known Mutation |
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