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Molecular Genetics

List of Disorders

The Molecular Genetics Laboratory offers testing for the following disorders:

Disorder

Level of service

Target reporting time (working days) *

Acral skin peeling syndrome

Sequence analysis of TGM5 gene

40

ADPKD

Microsatellite markers; chromosomes 4 and 16

40

ARPKD

Microsatellite markers; chromosome 6

20

Azoospermia

CF29 ARMS; PCR for Y-chromosome microdeletions

20

BCIE

Sequence analysis of K1 and K10 genes

40

Biotinidase deficiency

Sequence analysis of 4 exons of BTD gene

20

Cerebral cavernous malformations

Sequence analysis of CCM genes; MLPA

40

CF

ARMS CF29 mutation screen

20

Common trisomies

QF-PCR for 13, 18 and 21

2

Crigler-Najjar syndrome

Sequence analysis of UGT1 gene

40

Deafness; recessive non-syndromic

Sequence analysis of GJB2 gene; common GJB6 deletions

20

Dystonia; torsion

Amplification of DYT1 3bp deletion

20

EBS

Sequence analysis of K5 and K14 genes

40

EPPK

Sequence analysis of K9 and K1 genes

40

Familial amyloidosis (Finnish type)

Detection of codon 187 mutation in gelsolin gene

20

Gilbert syndrome

Amplification UGT1 promoter repeat

20

GIST

Screening of cKIT and PDGFR

40

Hereditary haemochromatosis

ARMS; p.Cys282Tyr and His63Asp

20

HNPCC

Sequence analysis of MLH1; MSI and IHC of tumour samples

40

Hypertrophic ovarian dysgenesis with normal karyotype

Sequence analysis for p.Ala189Val mutation in FSHR

20

Hypokalemic periodic paralysis

Sequence analysis of CACN1AS and SCN4A genes for common mutations

20

IBS

Sequence analysis of K2 gene

40

Ichthyosis vulgaris

Detection of common filaggrin mutations

20

Lamellar ichthyosis

Sequence analysis of TGM1 gene

40

Lymphoma

Analysis of IgH and TCR gene rearrangments

20

MCAD

Sequence analysis of ACADM gene

40

MEN1

Sequence analysis MEN1 gene

40

MEN2/FMTC

Sequence analysis of 6 exons of RET oncogene

40

MFS

Microsatellite markers; chromosome 15

20

Mitochondrial conditions

Sequence analysis of mtDNA

40

MYH polyposis

Screen for common mutations; HRM and sequencing

20

Myotonic dystrophy

Amplification of CTG repeat in DMPK gene

20

NF1

Microsatellite markers; chromosome 17

20

OPMD

PCR across triplet repeat; sequence analysis

20

Pelizaeus-Merzbacher disease

Sequence analysis of PLP1 gene; MLPA for duplication/deletion; GJA12 sequence analysis

40

Peutz-Jegher syndrome

Sequence analysis of STK11 gene; MLPA

40

Phaeochromocytoma

Sequence analysis of SDHB/SDHD genes; MLPA

40

Proximal symphalangism

Sequence analysis of NOG1 gene; 2 exons of GDF5 gene.

20

Retinoblastoma

Sequence analysis of RB1 gene; MLPA

40

Thrombophilia

ARMS for common p.Arg506Gln factor V Leiden and prothrombin g.20210G>A mutations

20

VHL

Sequence analysis of VHL gene; MLPA

40

* Target reporting times stated are per gene

*The laboratory aims to issue 95% of reports within this target time

 

Pre-natal/Urgent Tests and Predictive testing

95% of reports for Pre-natal testing or other Urgent tests will be issued within 5 working days provided appropriate material and information is provided.

95% of reports for predictive testing, where a pathogenic mutation has previously been identified in an affected family member will be issued within 10 working days.

NOTE:  Please contact the laboratory to discuss Pre-natal/Urgent testing before collecting the sample; this will ensure that the laboratory can issue a report as quickly as possible.