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 72 genes  Information sheet

Proforma

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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