|
Disease |
OMIM |
UKGTN service* |
|
Adrenoleukodystrophy (ALD
-X-linked): ABCD1 gene sequencing & MLPA |
300100 |
YES |
|
Aneuploidy: Trisomy 13
(Patau syndrome), Trisomy 18 (Edward syndrome),Trisomy 21
(Down syndrome)& XY aneuploidies e.g.
Klinefeltor & Turner syndrome. |
|
|
|
Breast/ovarian cancer : familial
known BRCA1+BRCA2
mutations only. |
113705
600185 |
|
|
Cerebral Autosomal Dominant
Arteriopathy with Sub-cortical Infarcts and
Leukoencephalopathy (CADASIL):
NOTCH3 sequencing. |
125310 |
YES |
|
Charcot Marie Tooth disease/Hereditary
Motor Sensory Neuropathy (CMT/HMSN): PMP22
duplication, PMP22 sequencing, MPZ sequencing,
connexin 32 (GJB1) sequencing, mitofusin (MFN2) sequencing. |
118200 |
YES |
|
Colorectal cancer:
KRAS codons 12, 13 & 61; BRAF
V600E. |
|
|
|
Cystic Fibrosis (CF) -
CFTR
gene, Cystic Fibrosis Transmembrane Conductance
Regulator: Common 32 CFTR mutations (Elucigene) |
219700 |
YES |
|
Dentatorubral-Pallidoluysian
Atrophy (DRPLA):
ATN1 triplet repeat analysis. |
125370 |
YES |
|
Duchenne Muscular Dystrophy
(DMD)/Becker Muscular Dystrophy (BMD):
Dystrophin exon copy number detection & linkage. |
310200 300276 |
YES |
|
Torsion dystonia - DYT1
deletion. |
605204 |
YES |
|
Familial Adenomatous Polyposis
(FAP) coli: Known
familial APC mutations only |
175100 |
|
|
Familial
Hypercholesterolaemia (FH):
Common LDLR, APOB & PCSK 20 mutations.
Sequencing LDLR exons 1-18, APOB exon 26 & PCSK9
exon 7. LDLR MLPA. |
|
|
|
Fetal Sexing |
|
|
|
Fragile X
disease (FraXA+FraXE):
FMR1 triplet repeat analysis. |
309548, 309550 |
YES |
|
Friedreich Ataxia (FRDA/FA)
: Frataxin triplet repeat analysis & sequencing. |
229300 |
YES |
|
Gilbert syndrome (Hyperbilirubinaemia
I): UGT1A1 gene,
UDP-glucuronosyltransferase:
UGT1A1
TA repeat analysis |
143500 |
YES |
|
Haemato-oncology:
JAK2 V617F & exon 12 sequencing.
FLT3 ITD; NPM1 ITD; B cell clonality. |
|
|
|
Hearing loss:Connexin 26
(Cx26): GJB2 sequencing; Connexin 30 (Cx30): common deletion;
Mitochondrial m.1555A>G mutation (aminoglycoside
induced deafness) |
12100,604418 |
|
|
Hereditary liability to pressure palsy
(HLPP/HNPP): PMP22 deletion & PMP22 sequencing. |
162500 |
YES |
|
Haemochromatosis(HCT/HH):
HFE
gene: c.845G>A; p.Cys282Tyr (C282Y) & c.187C>G;
p.His63Asp (H63D) mutation analysis |
235200 |
YES |
|
Hereditary Non Polyposis Colon Cancer
(HNPCC): MLH1, MSH2 & MSH6 sequencing &
MLPA; MSI analysis. |
114500 |
|
|
Huntington's
Disease (HD):
Huntingtin triplet repeat
expansion. |
143100 |
YES |
|
Lebers Hereditary Optic Neuropathy (LHON): m.11778A>G, m.3460A>G & m.14484T>C analysis. |
535000 |
YES |
|
Medium-chain acyl CoA
dehydrogenase (MCADD):
ACADM gene:
c.985A>G; p.Lys329Glu (K329E) mutation analysis |
201450 |
YES |
|
Mitochondrial disorders (MELAS,MERRF,NARP, Leigh
disease, Kearns Sayre, CPEO):
m.3243A>G, m.8344A>G,
m.8993T>C/G, large scale rearrangements). |
540000, 545000, 551500, 530000, 557000, 256000 |
YES |
|
Myoclonus (Myoclonic) dystonia: SGCE
sequencing. |
159900,
6041449 |
|
|
Myotonic
Dystrophy type I (DM1):
DMPK triplet repeat analysis. |
160900 |
YES |
|
Myotonic Dystrophy type 2 (DM2):
CNBP repeat analysis. |
|
YES |
|
Myotubular Myopathy:
MTM1 sequencing. |
310400 |
|
|
Nail Patella
Syndrome (NPS) -
LMX1B sequencing |
161200 |
YES |
|
Neuroferritinopathy (NFL) - FTL
exon 4 sequencing. |
606159 |
YES |
|
Oculopharyngeal Muscular
dystophy (OPMD) - PABPN1 triplet repeat
analysis |
164300 |
|
|
Pancreatitis (HP/PCTT) - hereditary:
PRSS1
gene, Cationic Trypsinogen, TRY1:
PRSS1 sequencing exons 2 & 3 &
MLPA |
167800 |
YES |
|
Pancreatitis - idiopathic:
SPINK1 gene,
Serine Protease Inhibitor Kazal-type I:
c.101A>G; p.Asn34Ser
(N34S) mutation analysis |
167790 |
|
|
Pantothenate Kinase Associated Neurodegeneration
(PKAN/Hallervorden Spatz disease): PANK2 gene
sequencing |
234200 |
YES |
|
Peutz-Jegher
syndrome (PJS): STK11 (LKB1) gene sequencing & MLPA |
175200 |
YES |
|
Prader Willi syndrome/ Angelman
syndrome (PWS/AS): methylation
studies & microsatellite analysis. |
176270 / 105830 |
YES |
|
Rett syndrome: MECP2 sequencing + MLPA |
300005 |
|
|
Spinal and
Bulbar Muscular
Atrophy (SBMA): AR triplet repeat analysis |
313200 |
YES |
|
Spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, SCA17): triplet repeat analysis. |
164400, 183090, 109150, 183086, 164500,
607136 |
YES |
|
Spinal
muscular atrophy (SMA):
SMN1 copy number & linkage analysis |
253300 |
YES |
|
Uveal Melanoma: MLPA analysis |
|
|
|
Uniparental disomy – UPD7
(Russell-Silver) and UPD14 microsatellite analysis. |
180860, 608149 |
YES |
|
Zygosity analysis |
|
YES |
|
|
|
|