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Tests: in laboratory order

VCGS Pathology Laboratories: VCGS Specimen Reception 8341-6354 (WCH extension 82-6354)
  • Yvette Grant

Cytogenetics

22q deletion test
Aneuploidy screen (FISH - chromosomes)
Angelman syndrome DNA test
Ataxia Telangiectasia (AT)
Banded karyotype
Bloom syndrome
Charcot Marie Tooth (CMT1a)
Chromosome analysis/studies - Postnatal Blood
Chromosome analysis/studies - Prenatal
Chromosome breakage syndromes
Cri-du-chat syndrome
Cytogenetics
DEB stress test
DiGeorge syndrome (DGS)
Down syndrome screen (FISH - chromosomes)
Fanconi anaemia (FA)
FISH (fluorescent in situ hybridisation) test
Fragile X (FRAXA / Fragile X DNA Test)
Hereditary neuropathy (HNPP)
HMSN type 1
Interphase FISH Test (pre/post natal)
Kallman syndrome
Karyotype
Micro-satellites
Miller Deiker syndrome
Mitomycin C stress test
MLPA Subtelomere studies
MLPA, Subtelomeres
MLPA, Telomeres, Sub-tel
MMC stress test
Peripheral muscular neuropathy
PLP gene (Pelizaeus Merzbacher)
PMP 22 - FISH test
Prader-Willi DNA test
Retinoblastoma - FISH test
Routine chromosomes
Routine cytogenetics
Sister chromatid exchange (SCE)
Smith Magenis syndrome
Sotos syndrome
Steroid Sulphatase Deficiency (STS)
Sub-telomere assay
Tomaculous neuropathy
Trisomy screen (FISH - chromosomes)
Uniparental disomy
UPD
Velocardiofacial syndrome (VCF)
Williams syndrome
Wolf-Hirschhorn syndrome

Maternal Serum Screening

Combined First Trimester Screening
Down screening - Maternal serum screening
Free bhCG
Maternal serum screening
MSS
PAPP-A
Quadruple test
Second trimester screening
Triple test (outdated term)

Metabolic Screening

2-aminoadipic semialdehyde
3-hydroxyglutaric acid
7-dehydrocholesterol
Acetoacetate
Acyl carnitines
Adelaide enzymes
alpha-aminoadipic semialdehyde, AASA
Amino acids - blood
Amino acids - CSF
Bile acid profile
Biotinidase
Carnitine - free and total
Chitotriosidase
Cystine
DHPR
Dihydropteridine reductase
Free fatty acids
GAA
Gal - 1 P Uridyl Transferase
Galactitol
Galactoscreen
Guanidinoacetic
Hydroxy butyrate
Lysosomal enzymes
Metabolic screen
Mucopolysaccharide screen
Oligosaccharides
Organic acids
Ornithine
Orotic acid
Phytanic acid
Pompe disease
Purine & pyrimidine screen
Pyruvate - blood
Pyruvate - CSF
Reducing substances
Succinyl acetone
Transferrin isoforms
Very long chain fatty acids
White cell enzymes
Xanthine

Mitochondrial Diagnosis

Cytochrome c oxidase
Cytochrome oxidase
Electron Transport Chain (ETC)
Fumarase
Fumarate hydratase
Holocarboxylase Synthetase
Mitochondrial - enzyme analysis
Multiple Carboxylase
Oxidative Phosphorylation
Oxphos
PDH - enzyme analysis
PDHC
Pyruvate carboxylase
Pyruvate Decarboxylase
Pyruvate Dehydrogenase - enzyme analysis
Pyruvate Dehydrogenase Complex - enzyme analysis
RC enzymes
Respiratory Chain Enzymes

Molecular Genetics

35delG mutation
AAPC (attenuated APC)
Achondroplasia
APC gene analysis
Apert syndrome
Ashkenazi genetic disorders
CFTR gene
Congenital myotonic dystrophy
Connexin 26
Connexin 30
CPEO (Chronic Progressive External Opthalmoplegia)
Craniosynostosis
Cx26
Cx30
Cystic Fibrosis (CF) - Diagnostic testing
Cystic Fibrosis (CF) - Population screening
Deafness connexin
Dentatorubral Pallidoluysian Atrophy (DRPLA)
DF508 (delta F 508)
DM (Myotonic dystrophy)
DNA Extraction
DRPLA
Duchenne / Becker Muscular Dystrophy (DMD/BMD)
Dystrophin gene analysis
Dystrophinopathy
Emerin gene
Emery Dreifuss Muscular Dystrophy (EDMD)
Familial adenomatous polyposis coli (FAP)
FGFR
Fibroblast Growth Factor Receptor Disorders (FGFR)
Frataxin gene
FRDA
Friedreich's Ataxia (FA)
Hereditary Non Polyposis Colorectal Cancer (HNPCC)
Huntington's Disease (HD)
Hypochondroplasia
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
MAP
MCAD - mutation analysis (Medium chain acyl CoA dehydrogenase)
MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis & Stroke-like episodes)
Menkes disease - mutation validation
MERRF (Myoclonus Epilepsy, Ragged Red Fibres)
Mitochondrial cytopathy - mutation analysis
Mitochondrial disorders - mutation analysis
MLH 1
MSH 2
MSH 6
MYH Associated Polyposis (MAP)
MYH testing
Myotonic dystrophy
NARP (Neurogenic muscle weakness, ataxia & retinitis)
Neurofibromatosis type 2
NF2
Ornithine Transcarbamylase Deficiency (OTC)
OTC (known family mutations only)
Pearson syndrome
Pfeiffer syndrome
Pigmentosa
PKU (Phenylketonuria) - common mutations
PMP 22 - mutation analysis
Pol G
POLG
Polymerase Gamma
Retinoblastoma - mutation detection
SCA type 6 (Ataxia)
SCA type 7
SCA types 1, 2, 3 (Machado Joseph Disease)
SMA type I (Werdnig Hoffman)
SMA types II & III (Kugelberg-Welander)
SMN1
SMN2
Spinal muscular atrophy (SMN gene)
Spinocerebellar ataxia (SCA)

Newborn Screening

Cystic Fibrosis (CF) - Screening test
Guthrie card or Guthrie test
Heel Prick
Hypothyroidism (CH)
IRT
MCAD Screening
MSMS
Newborn Screening (NBS)
Phenylalanine
PKU Screening
Tandem mass spec screening
TSH