Scottish Molecular Consortium DNA Tests

Disease

Lab*

Service

Acral peeling skin syndrome

D

Sequence analysis of TGM5 gene

ADPKD

D

Microsatellite analysis

ARPKD

D

Sequence analysis of PKHD1

Angelman syndrome

G

Inc. UBE3A mutations

ARVC

A

PKP2 mutations

Bullous congenital ichthyosiform erythroderma BCIE (keratin)

D

Sequence analysis of KRT1 & KRT10 genes

Biotinidase deficiency

D

Sequence analysis of BTD gene

Birt Hogg Dube

G

FLCN sequencing

Breast Cancer

A

BRCA 1 mutations

Breast Cancer

A

BRCA 2 mutations

Cadasil

G

 

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

A

RYR2 gene sequence

Cerebral cavernous malformations

D

Sequence CCM genes; MLPA

CHARGE syndrome

G

CHD7 mutations

Congenital Hypothyroidism

G

TPO, TSHR & Thyroglobulin Sequencing

Congenital Hypothyroidism

D

TITF1 sequencing

Crigler-Najjar syndrome

D

Sequence UGT1 gene

Duchenne/ Becker muscular dystrophy (DMD/ BMD)

G

Inc. dystrophin mutations

Deafness – non syndromic(GJB2, GJB6)

D

Sequence GJB2; GJB6 deletions

Dystonia - torsion

A, D

DYT1 deletion

Epidermolysis bullosa (keratin)

D

Sequence KRT5 & KRT14

Epidermolytic palmoplantar keratoderma (EPPK)

D

Sequence KRT1 & KRT9

Factor V Leiden

A,D,G

Specific mutation

Familial adenomatous polyposis (FAP)

A,D

Sequence APC & MYH; MLPA for deletions

Familial hypercholesterolaemia

A

LDLR sequence & specific mutations

Fibrodysplasia Ossificans Progressiva (FOP)

G

Specific mutation

Fukuyama Congenital muscular dystrophy

G

FKRP sequencing

Gastrointestinal stromal tumours (GISTs)

D

Sequence analysis of selected exons of KIT and PDGFRA genes

Gilbert syndrome

D

Common mutation in UGT1 promoter

GRA (hyperaldosteronism)

A

 

Haemochromatosis

A,D,G

Common mutations

Hereditary liability to pressure palsy (HLPP)

A

Common mutations

Hereditary motor sensory neuropathy (HMSN, CMT)

A

MLPA, P0,PMP22,CX32 mutations

Hirschsprung’s disease (HSCR)

D

Sequence analysis of RET gene

Hypokalemic periodic paralysis 1 (HOKPP1)

D

Common mutations in CACN1AS & SCN4a

Ichthyosis bullosa of Siemens

D

Sequence KRT2 gene

Incontinentia pigmentii

G

Common del. & X inactivation

Ichthyosis; recessive congenital form

D

Sequence TGM1 & ALOX12

Ichthyosis vulgaris

D

Common FLG mutations

Lesch-Nyhan syndome

G

HPRT mutations

Leber hereditary optic neuropathy (LHON)

D

Common mutations

Lesch-Nyhan syndome

G

HPRT mutations

Long QT syndrome

A

KCNQ1, KCNH2, SCN5A & other gene sequences

Marfan syndrome

D

Sequence analysis of FBN1; deletion testing by MLPA; sequence analysis of TGFBR1 & 2

MCAD

D

Sequence ACADM gene

Medullary thyroid carcinoma

D

Common mutation in RET

Mitochondrial disorders (not LHON)l

D

Sequence analysis for common point mutations.

SURF1 sequencing for Leigh’s referrals.

Methylenetetrahydrofolate reductase deficiency (MTHFR)

G

C677T mutation

Multiple endocrine neoplasia type 1

D

Sequence MEN1 gene

Multiple endocrine neoplasia type 2a/2b or FMTC

D

Sequence analysis of selected RET exons; complete sequence analysis of RET if required

Myotonic dystrophy type 2

A

Mutation test

Nephronophthisis (familial juvenile)

G

Common deletion NPH1

Neurofibromatosis (NF1)

D

Microsatellite markers

Oculopharyngeal muscular dystrophy (OPMD)

D

Repeat in OPMD gene; sequence 25 codons

Pachyonychia congenita

D

Confirm identified mutation

Parkinson’s disease (early onset)

D

Sequence analysis of PARK2 gene; screen for common LRRK2 mutation; deletion testing by MLPA

Peeling skin syndrome (PSS)

D

Sequence analysis of TGM5 gene

Pelizaeus Merzbacher

D

Sequence PLP1; GJA12; MLPA

Pendred syndrome

D

Sequence analysis of SLC26A4 gene; deletion testing by MLPA

FOXI1 sequencing if only one SLC26A4 mutation detected

Peutz Jeghers syndrome

D

Sequence STK11; MLPA

Phaeochromocytoma/ paraganglioma

D

Sequence SDHB/SDHC/SDHD; MLPA

Prader Willi syndrome

G

 

Proximal symphalagism

D

Sequence NOG1; GDF5

Retinoblastoma

D

RB1 mutations, MLPA

Rett syndrome

G

Sequence MECP2

Severe myoclonic eplilepsy of infancy (SMEI)

G

SCN1A mutations

Smith Lemli Opitz

G

DHCR7 sequencing

Thrombophilia

A,D,G

Testing for p.Arg506Gln and g.20210G>A mutations

Von Hippel Lindau

D

Sequence VHL; MLPA

*A = Aberdeen, D = Dundee, G = Glasgow

Last Reviewed: 17/09/2015