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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