Molecular Genetics Tests

List of services available at this laboratory

 

Mi Seq

 

General

 

Cell-free fetal DNA testing   

 

Cardiovascular Disease

 

Skeletal Dysplasia

 

Craniosynostosis

 

Deafness

 

Immunodeficiencies

 

Metabolic disorders

 

Renal disorders

 

Next Generation Sequencing panels

 

General

 

  Additional Information
Angelman syndrome

Information sheet
Bardet-Biedl syndrome Information sheet
Breast/Ovarian cancer (Familial) Information sheet
Congenital Tufting Enteropathy Information sheet
Cystic Fibrosis

Information sheet
Early Infantile Epileptic Encephalopathy (EIEE)

Information sheet

Proforma
Fragile X syndrome

Information sheet
GNAS disorders

Albright hereditary osteodystrophy

Information sheet
IL-10 related inflammatory bowel disease

Information sheet
McCune Albright syndrome

Information sheet
Coffin Siris and Nicolaides Baraitser syndrome

Information sheet
Primary congenital glaucoma

Information sheet

CYP1B1 gene

Pulmonary Surfactant Metabolism Dysfunction types 1, 2 & 3

Pulmonary fibrosis

Information sheet

Surfactant referral form
Popliteal Pterygium syndrome

IRF6 gene

Information sheet
Prader-Willi syndrome

Information sheet
Rett Syndrome

Information sheet
Rhabdoid tumour predisposition syndrome

Information sheet
Van der Woude syndrome

IRF6 gene

Information sheet
Very early onset inflammatory bowel disease (VEO-IBD)

Information sheet

Proforma
X-inactivation

Information sheet
Zygosity testing                                             

Information sheet

Cell-free fetal DNA testing

 

Cell-free fetal DNA sex determination

Information sheet
FGFR3-related skeletal dysplasia NIPD NGS panel

Information sheet
Apert syndrome NIPD NGS panel

Information sheet
Crouzon with acanthosis nigricans NIPD NGS panel

Information sheet
FGFR2-related skeletal dysplasia NIPD NGS panel

Information sheet
Cystic fibrosis NIPD (relative haplotype dosage)

Information sheet
Cystic fibrosis NIPD (paternal mutation exclusion)

Information sheet

Cardiovascular Disease

 

Familial hypercholesterolaemia

LDLR, APOB, PSCK9, LDLRAP1 NGS panel

Information sheet

 
Hypertrophic Cardiomyopathy                         

MYBPC3, MYH7, TNNT2, TNNI3 genes

Information sheet

 
Loeys-Dietz syndrome

TGFBR1+TGFBR2 genes

Information sheet

Skeletal Dysplasia

 

Achondroplasia

Information sheet
Hypochondroplasia

Information sheet
Thanatophoric Dysplasia                                

Information sheet
FGFR3-related skeletal dysplasia NIPD NGS panel

Information sheet

Craniosynostosis

 

Apert syndrome 

Information sheet
Apert syndrome NIPD NGS panel

Information sheet
CATSHL Information sheet
Craniofrontonasal syndrome Information sheet

Craniosynostosis type 3

(TCF12-related craniosynostosis)

 Information sheet

Craniosynostosis type 4

(ERF-related craniosynostosis

 Information sheet
Craniosynostosis with dental anomalies

Information sheet
Crouzon syndrome

Information sheet
Crouzon syndrome with acanthosis nigricans Information sheet
Crouzon syndrome with acanthosis nigricans NIPD NGS panel Information sheet
Glass syndrome

Information sheet
Muenke syndrome

Information sheet
Non-invasive prenatal diagnosis NGS panel FGFR2-related craniosynostosis

Information sheet
Pfeiffer syndrome

Information sheet
Saethre-Chotzen syndrome                             

Information sheet

Deafness

 

Aminoglycoside induced deafness Information sheet
Branchio-oto-renal syndrome

Information sheet

Connexin 26 (DFNB1)

Information sheet
EAST syndrome Information sheet
Non-syndromic hearing loss NGS panel

Information sheet

Proforma
Pendred syndrome                       

Information sheet
Usher syndrome NGS panel

Information sheet

Proforma
Waardenburg syndrome Types 1-4 Information sheet
X-linked deafness Information sheet

Immunodeficiencies

 

Autoimmune lymphoproliferative syndrome (ALPS) Information sheet
Activated PI3 kinase delta syndrome Information sheet
Cartilage Hair Hypoplasia Information sheet
Familial hemophagocytic lymphohistiocystosis

Information sheet
Hyper IgM syndrome (HIGM)

Information sheet
Interleukin 7 receptor alpha SCID Information sheet
IL10-related infantile inflammatory bowel disease Information sheet
JAK3-deficient severe combined immunodeficiency

Information sheet
Lymphoproliferative syndrome 1

Information sheet
Netherton syndrome

Information sheet
Primary immunodeficiency NGS panel

Information sheet

Proforma
Radiation-sensitive SCID Information sheet
RAG-deficient severe combined immunodeficiency

Information sheet
Wiskott-Aldrich syndrome

Information sheet
X-linked agammaglobulinaemia

Information sheet
X-linked Lymphoproliferative syndrome

Information sheet
X-linked Severe combined immunodeficiency

Information sheet

Metabolic Disorders

 

Mucopolysaccharidosis (MPS)

 

MPSI (Hurler / Scheie)

Information sheet
MPSII (Hunter)

Information sheet

MPSIII (Sanfilippo)                                          

Information sheet

Sphingolipidosis / Gangliosidosis

 

Fabry disease

Information sheet
Gaucher disease

Information sheet
Metachromatic Leukodystrophy (MLD)

Information sheet
Pseudodeficiency of Arylsulphatase A (PDASA) Information sheet
Krabbe disease

Information sheet

Neuronal Ceroid Lipofuscinosis (NCL / Batten disease)

 

Neuronal ceroid-lipofuscinosis - multiple types (14 gene NGS screen)

 

Information sheet
Neuronal ceroid-lipofuscinosis type 1 (PPT1)     

Information sheet

Includes infantile onset NCL
Neuronal ceroid-lipofuscinosis type 2 (CLN2)

Information sheet

late-infantile onset NCL
Neuronal ceroid-lipofuscinosis type 3 (CLN3)

Information sheet

Juvenile onset NCL
Variant neuronal ceroid-lipofuscinosis (CLN5/6/7/8)

Information sheet

'Variant late-infantile' onset NCL

Other Lysosomal Storage Disorders

 

 

Schindler disease

 

Information sheet

 Glycogen Storage Disorders

 

Glycogen Storage Disease Type Ia

Von Gierke disease

Information sheet
Glycogen Storage Disease Type 2

Pompe disease

Acid maltase deficiency

Information sheet

Urea Cycle Defects

 

Carbamoylphosphate synthetase I deficiency    

Information sheet

Linkage only
Ornithine transcarbamylase deficiency

Information sheet

 

Fatty Acid Oxidation Disorders

 

Long-chain, deficiency of Acyl-CoA dehydrogenase

Information sheet

c.1528G>C (p.Glu510Gln) only
Medium-chain, deficiency of Acyl-CoA dehydrogenase

Information sheet

Pyridoxine-dependent epilepsy

 

Pyridoxine-dependent epilepsy Information sheet                   

Osteopetrosis

 

Osteopetrosis, autosomal recessive                 

Information sheet

TCIRG1 gene

Renal Disorders

 

CFHR5 nephropathy

Information sheet
Cystinosis

Information sheet
Juvenile Nephronophthisis (NPHP1)

Information sheet

250kb deletion only; no carrier testing
Steroid Resistant Nephrotic Syndrome (NPHS2)     

Information sheet

 
Renal tubulopathies (37 gene panel)

Information sheet

Next Generation sequencing panels

 

Aortopathy

Panel of 19 genes

Information sheet
Bardet-Biedl syndrome  Panel of  20 genes  Information sheet
Ciliopathies (various sub-panels available) Panel of 125 genes  Information sheet
Clinical exome (targeted panels - GOSHome) Approx 5000 genes  Information sheet
Dermatology (various sub-panels available) Panel of up to 80 genes  Information sheet

Early Infantile Epileptic Encephalopathy

(EIEE)

Panel of 82 genes  Information sheet
Familial Breast/Ovarian Cancer BRCA1/2  Information sheet
Familial Hypercholesterolaemia Panel of 4 genes  Information sheet
Inherited hearing loss panel

Panel of 108 genes   Information sheet

Proforma
Congenital eye disorders exome panel (various subpanels avaiable)

Panel of up to 449 genes   Information sheet
Renal tubulopathies (various subpanels available

Panel of 37 genes

Information sheet
Primary immunodeficiency

Panel of 71 genes   Information sheet

Proforma

Very Early Onset Inflammatory Bowel

Disease (VEO-IBD)

Panel of 41 genes   Information sheet

Proforma

 

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