Progenics Genomics Services
General
Oncology
Cardiology
Neurology
Nephrology
Metabolic Genetics
Hematology
CMA+
General
| Service Code | Service Name | Panel Details | Methodology |
| GHS001 | Clinical Exome Seq (CES) | 6016+genes | NGS |
| GHS002 | CES with reflex Sanger Validation | NGS | |
| GHS003 | WES – Whole Exome Sequencing | All protein-coding regions the genome comprising >18,000 genes | NGS |
| GHS004 | CES Trio (Clinical Exome Sequencing) | 6016+ genes | NGS |
| GHS005 | Whole Exome Sequencing(WES) + Mitochondrial genome | All protein-coding regions the genome comprising >18,000 genes and mitochondrial genome | NGS |
| GHS006 | Mitochondrial membrane transport disorders | 8+ genes | NGS |
| GHS007 | WES + MGS – Couple (Whole Exome Sequencing + Mitochondrial Genome Sequencing) | All protein-coding regions the genome comprising >18,000 genes and mitochondrial genome | NGS |
| GHS008 | WES Trio + Mitochondrial | All protein-coding regions the genome comprising >18,000 genes and mitochondrial genome | NGS |
| GHS009 | MLPA for mitochondrial DNA | MLPA | |
| GHS010 | MGS (Mitochondrial Genome Sequencing) | 33+ genes | NGS |
| GHS011 | Whole Exome Sequencing(WES) with Mitochondrial Genome Sequencing – RAPID | NGS |
Oncology
| Service Code | Service Name | Panel Details | Methodology |
| CGS001 | BRCA1&2 gene deletion/duplication analysis | MLPA | |
| CGS002 | BRCA1 & BRCA2 deletion/duplication analysis | BRCA1, BRCA2 (2 gene) | MLPA |
| CGS003 | BRCA1 & BRCA2 mutation analysis | BRCA1, BRCA2 (2 gene) | NGS |
| CGS004 | HPV High Risk Genotype by PCR, Urine | Real Time PCR | |
| CGS005 | HPV Sanger Sequencing Genotype test | Sanger Sequencing | |
| CGS006 | Hereditary cancer gene panel | 105+genes | NGS |
Cardiology
| Service Code | Service Name | Panel Details | Methodology |
| CAD001 | Cardiomyopathy gene panel | 150+genes | NGS |
| CAD002 | Cardiac channelopathy gene panel | 40+genes | NGS |
Neurology
| Service Code | Service Name | Panel Details | Methodology |
| NWS001 | Charcot-Marie-Tooth and sensory neuropathies gene panel | 75+genes | NGS |
| NWS001 | Neuropathy gene panel | 108+genes | NGS |
| NWS002 | Comprehensive neurology panel | Comprehensive Neurology Panel Genes (1505 genes) are listed in the APPENDIX | NGS |
| NWS003 | Neurofibromatosis type 1 (NF1) deletion/duplication analysis | MLPA | |
| NWS004 | Neurofibromatosis type 2 (NF2) deletion/duplication analysis | MLPA | |
| NWS005 | GM1 gangliosidosis/ mucopolysacchar idosis type IVB (GLB1) gene analysis | GLB1 | NGS |
| NWS006 | Charcot-Marie-Tooth 1A/HNPP (PMP22, COX10, TEKT3) deletion/duplication analysis | MLPA | |
| NWS007 | Charcot-Marie-Tooth type 4 (EGR2, GDAP1, NEFL, PRX) deletion/duplication analysis | MLPA | |
| NWS008 | Epileptic encephalopathy gene panel | 110+Genes | NGS |
| NWS009 | Progressive myoclonic epilepsy gene panel | 28 Genes | NGS |
| NWS010 | Dystonia gene panel | 80+ genes | NGS |
| NWS011 | Early-onset juvenile parkinsonism gene panel | 13 Genes | NGS |
| NWS012 | Hereditary spastic paraplegia gene panel | 70 + Genes | NGS |
| NWS013 | Hypomyelination syndrome gene panel | 33+genes | NGS |
| NWS014 | Joubert syndrome gene panel | 32+Genes | NGS |
| NWS015 | Muscular dystrophy & congenital myopathy gene panel | 120+Genes | NGS |
| NWS016 | Myotonic Dystonia | NGS | |
| NWS017 | Spinal Muscular Atrophy (SMA1 & SMA2) | MLPA | |
| NWS018 | Spinal muscular atrophy gene panel (does not include SMN1/SMN2) | 20+genes | NGS |
Nephrology
| Service Code | Service Name | Panel Details | Methodology |
| REN001 | Nephrogenic diabetes insipidus gene panel | AQP2, AVPR2 | NGS |
| REN002 | Polycystic kidney disease gene panel (CES) | PKD1, PKD2, PKHD1, | NGS |
| REN003 | Zellweger syndrome gene panel | 13 genes | NGS |
| REN004 | Hypercalciuria gene panel | 34+genes | NGS |
Metabolic Genetics
| Service Code | Service Name | Panel Details | Methodology |
| MGS001 | Neonatal Diabetes Mellitus (NDM) | NGS | |
| MGS002 | Maturity-onset diabetes of the young (MODY) & neonatal diabetes gene panel | 31+Genes | NGS |
| MGS003 | Disorders of amino acid and peptide metabolism | 104+Genes | NGS |
| MGS004 | Disorders of carbohydrate metabolism gene panel | 70 Genes | NGS |
| MGS005 | Disorders of lipid and lipoprotein metabolism | 53+genes | NGS |
| MGS006 | Disorders of vitamins and co-factor metabolism | 39 genes | NGS |
| MGS007 | Disorders of the metabolism of sterols gene panel | 25 genes | NGS |
| MGS008 | Immune disorders gene panel | 16 Genes | NGS |
| MGS009 | Galactosemias gene panel | GALE, GALK1, GALT | NGS |
Hematology
| Service Code | Service Name | Panel Details | Methodology |
| HAE001 | Beta Globinopathy (HBB Gene mutation and deletion) | Sanger and MLPA | |
| HAE002 | Comprehensive Beta Globinopathy (HBB Gene mutation and deletion)-TRIO | Sanger and MLPA | |
| HAE003 | Beta Globinopathy (Trio Analysis) | HBB | Sanger sequencing |
CMA+
| Service Code | Service Name | Panel Details | Methodology |
| CMA001 | Chromosomal Microarray (CMA 715 k)-Couple | Microarray | |
| CMA002 | Whole exome seq + Chromosomal Microarray (CMA 750 k) | NGS, Microarray | |
| CMA003 | Clinical exome seq + Chromosomal Microarray (CMA 750 k) | NGS, Microarray | |
| CMA004 | FISH (13,18,21,X,Y) and Chromosomal Microarray (CMA 750k) combo | FISH, Microarray |
