|
Disease |
OMIM |
UKGTN service* |
|
Barth
Syndrome (TAFAZZIN) |
302060 |
UKGTN |
|
**Butyrylcholinesterase
deficiency
(via
Cholinesterase Investigation Unit, Biochemistry) |
177400 |
UKGTN |
|
Congenital
Central Hypoventilation Syndrome (CCHS/PHOX2B) |
209880,
603851 |
UKGTN |
|
Charcot-Marie-Tooth Type/HMSN 1A
(17p
duplication and PMP22) |
118220 |
UKGTN |
|
Charcot-Marie-Tooth Type/HMSN 1B (Myelin
Protein Zero/MPZ) |
118200 |
UKGTN |
|
Charcot-Marie-Tooth/HMSN Type X1 (Connexin 32) |
302800 |
UKGTN |
|
Charcot-
Marie- Tooth/HMSN type 1D Dejerine Sottas
(HMSN3) Congenital Hypomyelinating
Neuropathy (CMT4E) (EGR2) |
129010,
145900, 607678, 605253 |
UKGTN |
|
Charcot-
Marie- Tooth/HMSN type 1F /2E (NEFL) |
162280
607684 607734 |
UKGTN |
|
Charcot-
Marie- Tooth/HMSN type 4F Dejerine Sottas
(HMSN3) (PRX) |
605725,
145900 |
UKGTN |
|
Cystic Fibrosis |
219700 |
|
|
Duchenne/Becker Muscular
Dystrophy |
310200 / 300376 |
|
|
Facioscapulohumeral Muscular Dystrophy (FSHD) |
158900 |
UKGTN |
|
Factor V Leiden |
227400 |
|
|
Fragile X disease |
309550 |
|
|
Galactosaemia |
230400 |
UKGTN |
|
Haemochromatosis |
235200 |
|
|
Huntington Disease |
143100 |
|
|
Hereditary
Sensory and Autonomic Neuropathy (HSAN1/SPTLC1) |
162400 |
UKGTN |
|
Hereditary
Neuropathy with Liability to Pressure Palsies (HNPP) |
162500 |
|
|
Hypertrophic
Neuropathy of Dejerine-Sottas |
145900 |
|
|
MCAD
Deficiency (Common mutation) |
201450 |
UKGTN |
|
Myotonic Dystrophy |
160900 |
|
|
Oligodendrogliomas:
MGMT methylation
Loss of heterozygosity (LOH) for
markers at 1p and 19q |
N/A |
|
|
Osteopetrosis (Autosomal
Recessive
Malignant
or Infantile)
(OSTM1) |
259700,
607649 |
|
|
Phenylketonuria
(PKU) |
261600 |
UKGTN
|
|
Prothrombin |
176930 |
|
|
Spinal
Muscular Atrophy (SMA) |
253300 |
|
|
Y chromosome
microdeletions |
|
UKGTN |
|
Zygosity
analysis |
|
|