Condition and Notes (hyperlinked to the OMIM database)

Turnround time

Adrenoleukodystrophy  (X-linked)

Diagnostic testing for mutations in ABCD1 gene

8 weeks

Familial mutation studies

2 weeks

Aneuploidy screening (PCR based)

Screening for trisomy 13, 18 & 21 plus sex chromosome aneuploidies

3 days

Breast Cancer (familial)

BRCA1 & 2: Familial mutation studies only. Referrals only accepted from Clinical Genetics Department

2 weeks

CADASIL

Diagnostic testing for mutations in Notch3 gene

8 weeks

Familial mutation studies

2 weeks

Cystic Fibrosis

Diagnostic testing and carrier detection for 28 common CFTR mutations. Other rarer mutations by specific request

2 weeks

DRPLA

Testing for CAG expansion mutation

4 weeks

Duchenne/Becker Muscular Dystrophy

Diagnostic testing and carrier detection for deletion / duplication mutation plus linkage analysis where necessary

4 weeks

Dystonia, Torsion

Diagnostic testing for DYT1 mutation in Torsion Dystonia

4 weeks

Service for Myoclonic Dystonia under development)

(enquire)

Familial Adenomatous Polyposis

APC gene familial mutation studies only. Referrals only accepted from Clinical Genetics Department

2 weeks

Fragile X syndrome

Diagnostic testing and carrier detection for Frax A mutation. Frax E testing if specifically requested.

4 weeks

Friedreich Ataxia

Diagnostic & carrier testing for the GAA expansion mutation

4 weeks

Point mutation analysis in FXN gene

8 weeks

Gilbert syndrome

Testing for TATAA box mutation in UGT1A1 gene

4 weeks

Haemato-oncology

Testing for V617F mutation in JAK2 gene. (JAK2 Exon 12 mutations : contact laboratory).

4 weeks

Testing for ITD mutation in FLT3 gene

4 weeks

Testing for B cell IgH clonal rearrangements by PCR. (T cell clonal rearrangement testing: contact laboratory)

4 weeks

Haemochromotosis

Testing for C282Y mutation and H63D if indicated

4 weeks

Hearing Loss (Non-syndromic)

Diagnostic testing for Connexin 26 and 30 gene mutations

8 weeks

Familial mutation studies for Connexin 26 gene

2 weeks

Diagnostic testing for Mitochondrial mutation m.1555A>G

4 weeks

HMSN & HNPP (Charcot-Marie-Tooth Disease)

Testing for common 17p duplication and deletion

4 weeks

Testing for mutations in PMP22, MPZ, GJB1 and Mitofusin genes

8 weeks

Familial mutation studies for the above genes

2 weeks

Hereditary Non-Polyposis Colon Cancer (HNPCC)

Referrals only accepted from Clinical Genetics Department

Enquire

Huntington disease

Testing for CAG expansion mutation.  Pre-symptomatic Referrals only accepted from Clinical Genetics Department

4 weeks

Kennedy Syndrome (SBMA)

Testing for CAG expansion mutation

4 weeks

Leber's Hereditary Optic Neuropathy (LHON)

Diagnostic testing for 3 common mutations

4 weeks

Medium chain acyl dehydrogenase deficiency (MCADD)

Testing for common c.985A>G mutation only

4 weeks

Mitochondrial disease

Testing for common point mutations associated with MELAS, MERRF, NARP. Testing for mitochondrial genomic rearrangements (muscle biopsy preferred).

4 weeks

Myotonic Dystrophy (type 1)

Testing for CTG expansion mutation

4 weeks

Myotubular Myopathy (X linked)

Diagnostic testing for mutations in MTM1 gene

8 weeks

Familial mutation studies

2 weeks

Nail Patella Syndrome

Diagnostic testing for mutations in LMX1B gene

8 weeks

Familial mutation studies

2 weeks

Neuroferritinopathy

Testing for c.408insA mutation in FTL gene

4 weeks

Pancreatitis (Hereditary & Idiopathic)

Testing for PRSS1 mutations

8 weeks

Testing for CFTR and SPINK1 (N34S) mutations

4 weeks

Peutz-Jegher syndrome

Diagnostic testing for mutations in STK11 gene

8 weeks

Familial mutation studies

2 weeks

PKAN (Hallervorden-Spatz)

Diagnostic testing for mutations in PANK2 gene

8 weeks

Familial mutation studies

2 weeks

Prader-Willi & Angelman syndromes

Diagnostic testing using methylation studies

4 weeks

Family studies on positive cases by microsatellite analysis

4 weeks

Spinal Muscular Atrophy

Diagnostic and carrier testing for SMN1 deletions

4 weeks

Spinal Cerebella Ataxia (types 1, 2, 3, 6, 7, 17)

Testing for SCA1, SCA2, SCA3 and SCA6 CAG expansion mutations (SCA7 and SCA17 testing by specific request only)

4 weeks

Telomeric rearrangements

Testing for loss/gain of sub-telomeric regions of all chromosomes by MLPA analysis

4 weeks

Uniparental disomy studies

Testing for UPD7 and UPD14.  Parental samples required

4 weeks

Uveal Melanoma

Testing for rearrangements of chromosomes 1p, 3, 6 and 8 by MLPA analysis

4 weeks

Zygosity / Paternity analysis

Zygosity and Paternity testing is only available for clinical not social/legal cases

4 weeks