Tests: in alphabetic order | | | 22q deletion test |
| 2-aminoadipic semialdehyde |
| 35delG mutation |
| 3-hydroxyglutaric acid |
| 7-dehydrocholesterol |
| AAPC (attenuated APC) |
| Acetoacetate |
| Achondroplasia |
| Acyl carnitines |
| Adelaide enzymes |
| alpha-aminoadipic semialdehyde, AASA |
| Amino acids - blood |
| Amino acids - CSF |
| Aneuploidy screen (FISH - chromosomes) |
| Angelman syndrome DNA test |
| APC gene analysis |
| Apert syndrome |
| Ashkenazi genetic disorders |
| Ataxia Telangiectasia (AT) |
| Banded karyotype |
| Bile acid profile |
| Biotinidase |
| Bloom syndrome |
| Carnitine - free and total |
| CFTR gene |
| Charcot Marie Tooth (CMT1a) |
| Chitotriosidase |
| Chromosome analysis/studies - Postnatal Blood |
| Chromosome analysis/studies - Prenatal |
| Chromosome breakage syndromes |
| Combined First Trimester Screening |
| Congenital myotonic dystrophy |
| Connexin 26 |
| Connexin 30 |
| CPEO (Chronic Progressive External Opthalmoplegia) |
| Craniosynostosis |
| Cri-du-chat syndrome |
| Cx26 |
| Cx30 |
| Cystic Fibrosis (CF) - Diagnostic testing |
| Cystic Fibrosis (CF) - Population screening |
| Cystic Fibrosis (CF) - Screening test |
| Cystine |
| Cytochrome c oxidase |
| Cytochrome oxidase |
| Cytogenetics |
| Deafness connexin |
| DEB stress test |
| Dentatorubral Pallidoluysian Atrophy (DRPLA) |
| DF508 (delta F 508) |
| DHPR |
| DiGeorge syndrome (DGS) |
| Dihydropteridine reductase |
| DM (Myotonic dystrophy) |
| DNA Extraction |
| Down screening - Maternal serum screening |
| Down syndrome screen (FISH - chromosomes) |
| DRPLA |
| Duchenne / Becker Muscular Dystrophy (DMD/BMD) |
| Dystrophin gene analysis |
| Dystrophinopathy |
| Electron Transport Chain (ETC) |
| Emerin gene |
| Emery Dreifuss Muscular Dystrophy (EDMD) |
| Familial adenomatous polyposis coli (FAP) |
| Fanconi anaemia (FA) |
| FGFR |
| Fibroblast Growth Factor Receptor Disorders (FGFR) |
| FISH (fluorescent in situ hybridisation) test |
| Fragile X (FRAXA / Fragile X DNA Test) |
| Frataxin gene |
| FRDA |
| Free bhCG |
| Free fatty acids |
| Friedreich's Ataxia (FA) |
| Fumarase |
| Fumarate hydratase |
| GAA |
| Gal - 1 P Uridyl Transferase |
| Galactitol |
| Galactoscreen |
| Guanidinoacetic |
| Guthrie card or Guthrie test |
| Heel Prick |
| Hereditary neuropathy (HNPP) |
| Hereditary Non Polyposis Colorectal Cancer (HNPCC) |
| HMSN type 1 |
| Holocarboxylase Synthetase |
| Huntington's Disease (HD) |
| Hydroxy butyrate |
| Hypochondroplasia |
| Hypothyroidism (CH) |
| Interphase FISH Test (pre/post natal) |
| IRT |
| Kallman syndrome |
| Karyotype |
| Kearns-Sayre syndrome |
| Lamin gene |
| Leigh's disease |
| Long QT |
| LQT 1 KCNQ1 |
| LQT 2 KCNH2 |
| LQT 3 SCN5A |
| LQT 5 KCNE1 |
| LQT 6 KCNE2 |
| LQT 7 KCNJ2 |
| Lynch Syndrome |
| Lysosomal enzymes |
| MAP |
| Maternal serum screening |
| MCAD - mutation analysis (Medium chain acyl CoA dehydrogenase) |
| MCAD Screening |
| MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis & Stroke-like episodes) |
| Menkes disease - mutation validation |
| MERRF (Myoclonus Epilepsy, Ragged Red Fibres) |
| Metabolic screen |
| Micro-satellites |
| Miller Deiker syndrome |
| Mitochondrial - enzyme analysis |
| Mitochondrial cytopathy - mutation analysis |
| Mitochondrial disorders - mutation analysis |
| Mitomycin C stress test |
| MLH 1 |
| MLPA Subtelomere studies |
| MLPA, Subtelomeres |
| MLPA, Telomeres, Sub-tel |
| MMC stress test |
| MSH 2 |
| MSH 6 |
| MSMS |
| MSS |
| Mucopolysaccharide screen |
| Multiple Carboxylase |
| MYH Associated Polyposis (MAP) |
| MYH testing |
| Myotonic dystrophy |
| NARP (Neurogenic muscle weakness, ataxia & retinitis) |
| Neurofibromatosis type 2 |
| Newborn Screening (NBS) |
| NF2 |
| Oligosaccharides |
| Organic acids |
| Ornithine |
| Ornithine Transcarbamylase Deficiency (OTC) |
| Orotic acid |
| OTC (known family mutations only) |
| Oxidative Phosphorylation |
| Oxphos |
| PAPP-A |
| PDH - enzyme analysis |
| PDHC |
| Pearson syndrome |
| Peripheral muscular neuropathy |
| Pfeiffer syndrome |
| Phenylalanine |
| Phytanic acid |
| Pigmentosa |
| PKU (Phenylketonuria) - common mutations |
| PKU Screening |
| PLP gene (Pelizaeus Merzbacher) |
| PMP 22 - FISH test |
| PMP 22 - mutation analysis |
| Pol G |
| POLG |
| Polymerase Gamma |
| Pompe disease |
| Prader-Willi DNA test |
| Purine & pyrimidine screen |
| Pyruvate - blood |
| Pyruvate - CSF |
| Pyruvate carboxylase |
| Pyruvate Decarboxylase |
| Pyruvate Dehydrogenase - enzyme analysis |
| Pyruvate Dehydrogenase Complex - enzyme analysis |
| Quadruple test |
| RC enzymes |
| Reducing substances |
| Respiratory Chain Enzymes |
| Retinoblastoma - FISH test |
| Retinoblastoma - mutation detection |
| Routine chromosomes |
| Routine cytogenetics |
| SCA type 6 (Ataxia) |
| SCA type 7 |
| SCA types 1, 2, 3 (Machado Joseph Disease) |
| Second trimester screening |
| Sister chromatid exchange (SCE) |
| SMA type I (Werdnig Hoffman) |
| SMA types II & III (Kugelberg-Welander) |
| Smith Magenis syndrome |
| SMN1 |
| SMN2 |
| Sotos syndrome |
| Spinal muscular atrophy (SMN gene) |
| Spinocerebellar ataxia (SCA) |
| Steroid Sulphatase Deficiency (STS) |
| Sub-telomere assay |
| Succinyl acetone |
| Tandem mass spec screening |
| Tomaculous neuropathy |
| Transferrin isoforms |
| Triple test (outdated term) |
| Trisomy screen (FISH - chromosomes) |
| TSH |
| Uniparental disomy |
| UPD |
| Velocardiofacial syndrome (VCF) |
| Very long chain fatty acids |
| White cell enzymes |
| Williams syndrome |
| Wolf-Hirschhorn syndrome |
| Xanthine |