INHERITED NON-CANCER DISORDERS

Achondroplasia

Alpha1 antitrypsin deficiency

Alström syndrome

Angelman syndrome

ARC syndrome

Bannayan-Riley-Ruvalcaba syndrome

Becker Muscular Dystrophy (BMD)

Beckwith Wiedemann syndrome (BWS)

Charcot Marie Tooth Neuropathy Type 1A (CMT1A)

Charcot-Marie-Tooth Neuropathy Type 2A (CMT2A)

CHARGE syndrome

Combined Pituitary Hormone Deficiency

Congenital Adrenal Hyperplasia (CAH)

Cowden syndrome

Cystic Fibrosis

Deafness: connexin 26 & connexin 30

Dentatorubral-Pallidoluysian Atrophy (DRPLA)

DIDMOAD

Disomy studies

Duchenne Muscular Dystrophy (DMD)

Escobar syndrome

Fragile X syndrome

Friedreich Ataxia (FRDA)

Haemochromatosis

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)

Hereditary motor and sensory neuropathy type 1A (HMSN1A)

Hereditary motor and sensory neuropathy type 2A (HMSN2A)

Huntington Disease

Infantile Neuroaxonal Dystrophy (INAD)

Kennedy's disease

Laron syndrome

LEOPARD syndrome

Marfan syndrome

Mitochondrial disorders

Multiple Pterygium syndrome (CHRNG)

Myotonic Dystrophy type 1

Noonan syndrome

Panhypopituitarism

Prader-Willi syndrome

Proteus syndrome

PTEN hamartoma tumour syndrome

Rett syndrome

Sex determination

Silver-Russell syndrome

Smith Lemli Opitz

Sotos syndrome

Spinal and bulbar muscular atrophy (SBMA)

Spinal muscular atrophy (SMA)

Spinocerebellar ataxia (SCA)

Warburg Micro syndrome

Wolfram syndrome

X-inactivation

Zygosity studies

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Author: Joanne Mason   Authorised by: Fiona Macdonald   Version 1.0.5.5
Authorised on 10/03/2011   Next review date 10/03/2013
ONLY VALID ON DAY OF PRINTING

This page was last modified on Fri May 11 2012