| Current Services May 2005 |
| The number of disorders for which molecular
genetic testing is possible is increasing rapidly. The laboratory
monitors the situation and reviews the services accordingly. Please
contact the laboratory for an updated list of services provided. There
is an organised UK network (UKGTN) for testing for rare disorders. The laboratory
has arrangements with other centres for tests not included on the
list below. Please contact the laboratory for details. Useful sources
of information are the UK directory of molecular genetic services
(www.cmgs.org)
and the European directory of DNA laboratories (www.eddnal.com).
The preferred sample type is 5-10 mls blood (1-2 mls from small children) collected into EDTA , though other samples may be suitable.
Please contact the laboratory for further details.
|
| |
| Current
Services May 2005 |
 |
Adrenoleukodystrophy
(X-linked) |
Carrier detection and prenatal diagnosis using mutation detection
and/or linked marker analysis.
|
Breast Cancer (familial) |
Limited mutation testing of BRCA1 only at present.
Referrals only accepted from
Clinical Genetics Department.
|
CADASIL |
Diagnostic and presymptomatic testing available.
|
Cystic Fibrosis
|
Diagnostic testing , carrier detection and
prenatal diagnosis using test for 29 mutations.
Linked marker analysis where necessary.
Other rarer mutations available by specific request.
|
Dentatorubral-
pallidoluysian
Atrophy (DRLA)
|
Diagnostic testing using direct mutation detection. |
Duchenne/ Becker
Muscular
Dystrophy
Top of page
|
Diagnostic testing using multiplex deletion
test. Carrier detection and prenatal diagnosis using fluorescent dosage
analysis
|
Factor XI deficiency |
Diagnostic testing, carrier detection using test
for the common mutations only. Further mutation studies as part of an
ongoing research programme.
|
Familial Adenomatous
Polyposis
|
Presymptomatic testing using mutation screening
in exon 15 only, plus linked marker analysis where necessary.
|
Fragile X Syndrome |
Diagnostic testing, carrier detection
and prenatal diagnosis using direct FRAX A mutation detection.
FRAX E testing if specifically requested.
|
Friedrich Ataxia |
Diagnostic testing and carrier detection using direct detection
of the GAA expansion mutation. Other point mutation analysis
available on request.
|
Gilbert's Syndrome |
Diagnostic testing for TATAA box mutation only.
|
Haemochromatosis
|
Diagnostic testing and family studies
for the common C282Y mutation. Analysis of the H63D mutations
by request only.
|
Hereditary Motor and
Sensory
Neuropathy (HMSN)
Hereditary Liability to Pressure
Palsies (HNPP)
Top of page
|
Diagnostic and presymptomatic testing for common
17p duplication/deletion by fluorescent dosage analysis. |
Hereditary Pancreatitis |
Diagnostic and presymptomatic testing for three
common mutations in the PRSS1 gene. Further testing available as part
of the EUROPAC research programme
|
Huntington Disease |
Diagnostic testing and presymptomatic testing
using direct mutation detection. Presymptomatic testing samples only
accepted from the Clinical Genetics Department.
|
Kennedy Syndrome (SBMA) |
Diagnostic testing and presymptomatic testing
using direct mutation detection.
|
Leber's Hereditary Optic Neuropathy
(LHON)
|
Diagnostic testing using screen for 3 common mutations.
|
Medium Chain
Acyldehydrogenase
Deficiency (MCAD)
|
Diagnostic testing and carrier detection using
test for K329E common mutation.
|
Mitrochondrial Mutations |
Diagnostic testing using screen for common
mutations associated with MELAS, MERRF, NARP plus screen for common
deletion.
|
Myotonic Dystrophy |
Diagnostic and presymptomatic testing for
CTG expansion mutation.
|
Nail-Patella syndrome |
Diagnostic testing for unknown mutations in
the LMX1B gene by sequence analysis and family studies.
|
Norries Disease
Top of page
|
Diagnostic testing for unknown mutations in
the Norries gene by sequence analysis and family studies.
|
Neuroferritinopathy |
Diagnostic and presymptomatic testing for
408insA mutation.
|
Pantothenate Kinase associated neurodegeneration - PANK2 gene (Hallervorden-Spatz) |
Diagnostic index case testing and family studies.
|
Peutz-Jegher syndrome |
Diagnostic testing and family studies.
|
Prader Willi/ Angelman
Syndrome
|
Diagnostic testing using methylation studies.
Linked marker analysis on families to test for deletions,
uniparental disomy.
|
Sexing |
Confirmation of sex chromosome abnormalities
determined cytogenetically using test for AMXY and SRY sequences.
Prenatal diagnosis for X-linked disorders using test for AMXY sequences.
|
Silver- Russell syndrome |
Testing for chromosome 7 uni-parental
disomy. Parental samples required.
|
Spinal Muscular
Atrophy
|
Diagnostic testing using screen for SMN deletion.
Prenatal diagnosis using linked markers plus SMN
deletion screen. Additional point mutation testing on request.
|
Spinal Cerebellar
Ataxia
(types 1,2,3,6,7)
|
Diagnostic testing and presymptomatic
testing using direct mutation detection. Routine service for
SCA 1, 2, 3 and 6 unless specified. SCA 7 testing by request only.
|
Zygosity/ Paternal
analysis
|
Zygosity testing of twins using a panel of 11 highly polymorphic markers.
Paternity testing only available for clinical not social/legal cases.
|
Top of page
Revised 02.02.05 (Alan Clark)
Reviewed 18.05.05 (Alan Clark)
Authorised 18.05.05 (Roger Mountford)
|
|
Regional
Molecular Genetics
