|
Disease |
OMIM |
UKGTN service*
(Approved, Pending, N/A) |
|
Axenfeld-Rieger
(ARS)
(FOXC1 and
PITX2) |
180500/602482 |
Approved |
|
Barth Syndrome
(TAFAZZIN) |
302060 |
Approved |
|
BCR-ABL
in CML
(FISH, RT-PCR
and real time quantitative RQ-PCR) |
|
N/A |
|
**Butyrylcholinesterase
deficiency
(via
Cholinesterase Investigation Unit,
Biochemistry) |
177400 |
N/A |
|
Congenital
Central Hypoventilation Syndrome
(CCHS/PHOX2B) |
209880, 603851 |
Approved |
|
Charcot-Marie-Tooth Type/HMSN 1A
(17p
duplication and PMP22) |
118220 |
Approved |
|
Charcot-Marie-Tooth Type/HMSN 1B (Myelin
Protein Zero/MPZ) |
118200 |
Approved |
|
Charcot-Marie-Tooth/HMSN Type X1 (Connexin
32) |
302800 |
Approved |
|
Charcot- Marie-
Tooth/HMSN type 1D
Dejerine Sottas (HMSN3)
Congenital
Hypomyelinating Neuropathy (CMT4E) (EGR2) |
129010, 145900,
607678, 605253 |
Approved |
|
Charcot- Marie-
Tooth/HMSN type 2 (MFN2) |
|
Approved |
|
Charcot- Marie-
Tooth/HMSN type 1F /2E (NEFL) |
162280 607684
607734 |
Approved |
|
Charcot- Marie-
Tooth/HMSN type 4F
Dejerine Sottas (HMSN3) (PRX) |
605725, 145900 |
Approved |
|
Charcot-Marie-Tooth disease, Demyelinating,
Type 1C ; LITAF (SIMPLE) |
601098, 603795 |
Approved |
|
Cystic Fibrosis |
219700 |
Approved |
|
Facioscapulohumeral Muscular Dystrophy
(FSHD) |
158900 |
Approved |
|
Factor V Leiden |
227400 |
|
|
Familial
Hypercholesterolaemia
(LDLR full
screen plus APOB and PCSK9 common mutations) |
143890 |
Approved |
|
FLT3-NPM1
FLT-3
itd and the NPM1
Exon 12 mutation |
|
N/A |
|
Fragile X
disease |
309550 |
Approved |
|
Galactosaemia |
230400 |
Approved |
|
Haemochromatosis |
235200 |
|
|
Huntington
Disease |
143100 |
Approved |
|
Hereditary
Sensory and Autonomic Neuropathy
(HSAN1/SPTLC1) |
162400 |
Approved |
|
Hereditary
Neuropathy with Liability to Pressure
Palsies (HNPP) |
162500 |
Approved |
|
Hypertrophic
Neuropathy of Dejerine-Sottas |
145900 |
Approved |
|
JAK2
(V617F and Exon
12) |
|
N/A |
|
Lymphoma
(Immunoglobulin
and T cell receptor
clonality) |
|
N/A |
|
MCAD Deficiency
(Common
mutation) |
201450 |
Approved |
|
Minimal
Residual Disease in ALL |
|
N/A |
|
Myotonic
Dystrophy |
160900 |
Approved |
|
Gliomas:
MGMT
methylation
Loss of
heterozygosity (LOH) for markers at 1p and
19q |
156569
137800
|
N/A |
|
Osteopetrosis (Autosomal
Recessive
Malignant or Infantile)
(OSTM1);
other genes under development
|
259700, 607649 |
Approved |
|
Phenylketonuria
(PKU) |
261600 |
Approved |
|
Prothrombin |
176930 |
|
|
Smith-Lemli-Opitz |
270400 |
Approved |
|
Spinal Muscular
Atrophy (SMA) |
253300 |
Approved |
|
Y chromosome
microdeletions |
|
Approved |
|
Zygosity
analysis |
|
|