Disorder |
Level of service |
Reporting Time * |
Band |
Cost £ |
Acral skin peeling syndrome |
Sequence analysis of TGM5 gene |
40 |
D |
234 |
ADPKD |
Microsatellite markers; chromosomes 4 and 16 |
40 |
D |
234 |
ARPKD |
Sequence analysis of PKHD1 gene |
40 |
F |
974 |
|
MLPA analysis for PKHD1 deletions (2 kits) |
20 |
C |
286 |
Azoospermia |
CF29 ARMS; AZF deletions |
20 |
C |
Local referrals only |
BCIE |
Sequence analysis of K1 and K10 genes |
40 |
D |
312 |
Biotinidase deficiency |
Sequence analysis of 4 exons of BTD gene |
40 |
C |
156 |
BRAF |
Test for p.Val600Glu |
20 |
B |
117 |
Cerebral cavernous malformations |
Sequence analysis of CCM1,CCM2 and CCM3 |
40 |
E |
642 |
|
MLPA for CCM deletions (2 kits) |
20 |
C |
286 |
CF |
ARMS CF29 mutation screen |
20 |
C |
Local referrals only |
Common trisomies |
QF-PCR for 13, 18 and 21 |
2 |
C |
Local referrals only |
Crigler-Najjar syndrome |
Sequence analysis of UGT1 gene |
40 |
D |
234 |
Deafness; recessive non-syndromic |
Sequence analysis of GJB2 gene; common GJB6 deletions |
20 |
C |
143 |
Dystonia; torsion |
Amplification of DYT1 3bp deletion |
20 |
B |
117 |
EBS |
Sequence analysis of K5 and K14 genes |
40 |
D |
234 |
EPPK |
Sequence analysis of K9 and K1 genes |
40 |
D |
234 |
Familial amyloidosis (Finnish type) |
Detection of codon 187 mutation in gelsolin gene |
20 |
B |
117 |
Familial adenomatous polyposis |
Sequence analysis of APC gene |
40 |
E |
474 |
|
MLPA analysis for APC deletions |
20 |
C |
143 |
Gilbert syndrome |
Amplification UGT1 promoter repeat |
20 |
B |
117 |
GIST |
Screening of cKIT and PDGFRA |
40 |
D |
234 |
Hereditary haemochromatosis |
p.Cys282Tyr and His63Asp mutations |
20 |
C |
Local referrals only |
HNPCC-High risk |
Sequence analysis of MLH1 |
40 |
D |
390 |
|
MSI and IHC of tumour samples |
20 |
C |
Please contact lab |
Hyperkalaemic periodic paralysis |
Sequence analysis of common mutations in SCN4A |
40 |
C |
143 |
Hypokalemic periodic paralysis |
Sequence analysis of CACN1AS and SCN4A genes for common mutations |
40 |
C |
143 |
IBS |
Sequence analysis of K2 gene |
40 |
D |
234 |
K-ras (tumour tissue) |
Codon 12, 13 and 61 mutations |
Please contact lab |
C |
188 |
Lamellar ichthyosis (ARCI) |
Sequence analysis of TGM1 |
40 |
D |
312 |
|
Sequence analysis of ALOX12B |
40 |
D |
234 |
Lymphoma |
Analysis of IgH and TCR gene rearrangments |
20 |
D |
Local referrals only |
MCAD |
Sequence analysis of ACADM gene |
40 |
D |
312 |
MECP2 |
MLPA to detect deletion/duplication |
20 |
C |
143 |
MEN1 |
Sequence analysis MEN1 gene |
40 |
D |
312 |
MEN2/FMTC |
Sequence analysis of 6 exons of RET oncogene |
40 |
D |
234 |
Mitochondrial conditions |
Sequence analysis of mtDNA |
40 |
C |
156 |
MYH polyposis |
Sequence analysis for common mutations |
20 |
C |
130 |
|
MYH full screen by sequencing |
40 |
D |
234 |
Myotonic dystrophy |
Amplification of CTG repeat in DMPK gene |
20 |
B |
Local referrals only |
NF1 |
Microsatellite markers; chromosome 17 |
20 |
D |
234 |
OPMD |
PCR across triplet repeat; sequence analysis |
20 |
C |
130 |
Parkinsons disease |
Sequence analysis of PARK2 |
40 |
D |
312 |
|
Sequence analysis of LRRK2 (2 exons) |
20 |
B |
130 |
|
MLPA analysis for deletions (2 kits) |
20 |
C |
286 |
Pelizaeus-Merzbacher disease |
PLP1 gene dosage by MLPA |
20 |
C |
143 |
|
Sequence analysis of PLP1 |
40 |
D |
234 |
|
Sequence analysis of GJA12 |
40 |
C |
Please contact lab |
Peutz-Jegher syndrome |
Sequence analysis of STK11 gene |
40 |
D |
234 |
|
Deletion analysis by MLPA |
20 |
C |
143 |
Phaeochromocytoma |
Sequence analysis of SDHB |
40 |
D |
234 |
|
Sequence analysis of SDHC |
40 |
D |
234 |
|
Sequence analysis of SDHD |
40 |
C |
156 |
Proximal symphalangism |
Sequence analysis of NOG1 gene; 2 exons of GDF5 gene. |
40 |
C |
234 |
Thrombophilia |
Testing for p.Arg506Gln factor V Leiden and prothrombin g.20210G>A mutations |
20 |
C |
Local referrals only |
VHL |
Sequence analysis of VHL gene |
40 |
C |
143 |
|
Deletion analysis by MLPA |
20 |
C |
143 |
