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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.