Scitex Global Pty Ltd

Site

Genepath

Accreditation No.

20180

Site No.

23935

Date of Accreditation

23 May 2018

Address

Suite 302B, Level 3, 7 Help Street
Chatswood, NSW 2067
Australia

genepathlabs.com.au

Contact

Dr Glenn Bennett P: +61 (02) 91460141

Availability

Services available to external clients

Supervision

Not Applicable

Scope of Accreditation

Withdrawn 09 Aug 2022

Voluntary

Genepath

ISO 15189 (2012)

  • This facility complies with the relevant National Pathology Accreditation Advisory Council (NPAAC) requirements.

Human Pathology

Withdrawn
Service Product Determinant
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Targeted genes Buccal swabs Polycystic kidney disease
Molecular genetics - DNA extraction Buccal swabs Viable DNA for sequencing
Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted genes
Molecular genetics - Predictive genetic testing Buccal Swabs Nucleic acid analysis for specific variants (other than BRCA)
Molecular genetics - Screening for an unknown mutation - Targeted genes Buccal swabs Inherited disorders
2,4 Dienoyl-coenzyme A reductase deficiency; 2-Methyl-3-hydroxybutyric aciduria; 2-Methylbutyrylglycinuria; 3-Hydroxy-3-methylglutaric aciduria; 3-Hydroxy-3-methylglutaryl-coenzyme A synthase deficiency; 3-Methylglutaconic aciduria type I; Abetalipoproteinemia; Adenosine deaminase severe combined immunodeficiency (ADA-SCID); Adrenal hypoplasia congenita with complex glycerol kinase deficiency; Adrenoleukodystrophy (ALD); Arginase deficiency (hyperargininemia); Argininemia; Argininosuccinic aciduria; Aromatic L-amino acid decarboxylase deficiency; Ataxia with vitamin E deficiency (AVED); Autosomal recessive ectopia lentis; Autosomal recessive hypercholesterolaemia; Bare lymphocyte syndrome type II; Biopterin defect in cofactor biosynthesis; Biopterin defect in cofactor regeneration; Biotin-thiamine responsive basal ganglia disease; Biotinidase deficiency; Brugada syndrome; Carnitine acylcarnitine translocase deficiency; Carnitine palmitoyl transferase type I deficiency; Carnitine palmitoyl transferase type II deficiency; Carnitine uptake defect; Cerebral folate deficiency; Cerebrotendinous xanthomatosis; Chromosome Xp21 deletion; Citrullinemia type I; Citrullinemia type II; Classic galactosemia; Classic juvenile neuronal ceroid lipofuscinoses; Classic late infantile neuronal ceroid lipofuscinoses; Classic phenylketonuria; Classical homocystinuria; Coenzyme Q10 deficiency; Congenital hyperinsulinism; Congenital long QT syndrome (LQTS); Congenital sick sinus syndrome; Creatine transporter deficiency; Cystic fibrosis; Cystinosis; Dicarboxylic aminoaciduria; Dopamine transporter deficiency syndrome; Ectopia lentis et pupillae; Fabry disease; Familial Wolff-Parkinson-White syndrome; Familial atrial fibrillation; Familial combined hyperlipidaemia; Familial hemophagocytic lymphohistiocytosis; Familial hypercholesterolemia; Familial hypobetalipoproteinemia; Familial lipoprotein lipase deficiency; Fucosidosis; GM1 gangliosidosis and MPS IVB; Galactoepimerase deficiency; Galactokinase deficiency; Galactosemia type 1; Galactosemia type 2; Gaucher disease; Glucokinase deficiency; Glucose transporter type I deficiency syndrome; Glucose-6-phosphate dehydrogenase (G6PD) deficiency; Glutaric acidemia type 1; Glutaric acidemia type 2; Glutathione synthetase deficiency; Glycine encephalopathy; Glycogen storage disease Ia; Glycogen storage disease type II (Pompe disease); Guanidinoacetate methyltransferase deficiency; HFE-associated hereditary hemochromatosis; Haemochromatosis; Haemophilia A; Haemophilia B; Hartnup disease; Hereditary angioedema; Hereditary folate malabsorption; Hereditary fructose intolerance; Hexosaminidase A deficiency (Tay Sachs disease); Holocarboxylase synthetase deficiency; Homocystinuria; Hyperlipoprotienaemia type III; Hypermanganesemia with dystonia; Hypermethioninemia; Hypophosphatasia; IL7-R severe combined immunodeficiency (IL7-R-SCID); Infantile neuronal ceroid lipofuscinoses; Isovaleric acidemia; Krabbe disease; L-Arginine:glycine amidinotransferase deficiency; Lesch-Nyhan syndrome; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Malonic acidemia; Maple syrup urine disease; Maturity onset diabetes of the young (MODY); Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency; Medium/short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; Menkes disease; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Methylmalonic acidemia; Methylmalonic acidemia with homocystinuria; Methylmalonic acidemia with homocystinuria cblD; Methylmalonic acidemia with homocystinuria cblF; Mitochondrial trifunctional protein deficiency; Molybdenum cofactor deficiency type A; Molybdenum cofactor deficiency type B; Mucolipidosis II and IIIA; Mucopolysaccharidosis I; Mucopolysaccharidosis II (Hunter syndrome); Mucopolysaccharidosis IIIA; Mucopolysaccharidosis IIIB; Mucopolysaccharidosis IVA; Mucopolysaccharidosis VI; Multiple carboxylase deficiency; N-Acetylglutamate synthase deficiency; Neuronal ceroid lipofuscinosis 2; Niemann-Pick disease type A and B; Niemann-Pick disease type C; Non-ketotic hyperglycinemia; Occipital horn syndrome; Ornithine transcarbamylase deficiency; Permanent neonatal diabetes; Phenylalanine hydroxylase deficiency (PKU); Phosphoglycerate dehydrogenase deficiency; Phosphoserine aminotransferase deficiency; Phosphoserine phosphatase deficiency; Polycystic kidney disease; Primary carnitine deficiency (carnitine transport deficiency); Primary hyperoxaluria type 1; Primary hyperoxaluria type 2; Progressive familial heart block; Propionic acidemia; Pyridoxamine 5’-phosphate oxidase deficiency; Pyridoxine-dependent epilepsy; Pyruvate dehydrogenase deficiency; S-Adenosylhomocysteine hydrolase deficiency; SCN1A seizure disorders; Sandhoff disease; Sepiapterin reductase deficiency; Severe combined immunodeficiency disease (SCID); Sickle cell disease; Sitosterolaemia; Succinic semialdehyde dehydrogenase deficiency; Succinyl-coenzyme A:3-ketoacid-coenzyme A transferase deficiency; T-cell related lymphocyte deficiency; Thiamine-responsive megaloblastic anaemia syndrome; Tyrosine hydroxylase deficiency; Tyrosinemia type I; Tyrosinemia type II; Tyrosinemia type III; Very long chain acyl-coenzyme A dehydrogenase (vLCAD) deficiency; Vesicular monoamine transporter 2 deficiency; Vitamin D-dependent rickets type 1B; Vitamin K-dependent clotting factors deficiency; Wilsons disease; X-linked adrenal hypoplasia congenita; X-linked adrenoleukodystrophy; X-linked hypophosphataemia; X-linked severe combined immunodeficiency (X-SCID); β-Ketothiolase deficiency; β-Thalassaemia
Molecular genetics/Cytogenetics - Bioinformatic analysis DNA sequences Primary analysis - Conversion of instrument file to FASTQ or FASTA file; Secondary analysis - Alignment and variant calling

The only data displayed is that deemed relevant and necessary for the clear description of the activities and services covered by the scope of accreditation.

Grey text appearing in a SoA is additional freetext providing further refinement or information on the data in the preceding line entry.