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Our newsletter appears once every two months and reports about new and improved products. In addition, it contains news and announcements from MRC-Holland, among others information on upcoming workshops, recently identified problems associated with the use of MLPA, new publications and calls for testing new products.

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MRC-Holland newsletter 2018 November snapshot

new products
P484-ALPL
Hypophosphatasia (HPP)
P474-CD274-PDCD1LG2-JAK2
Various cancer types
P480-WHS & Achondroplasia
Wolf Hirschhorn Syndrome, Achondroplasia
P478-SMARCE1
Meningioma, Coffin-Siris syndrome
improved products
P021-SMA
Spinal muscular atrophy (SMA)
P128-CYP450
Cytochrome P450
P225-PTEN
PTEN hamartoma tumor syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related proteus syndrome, Proteus-like syndrome; (Tumour analysis for research use only)
P072-MSH6-MUTYH
Lynch syndrome; MUTYH-associated polyposis (MAP)
P158-JPS
Juvenile polyposis syndrome (JPS)
P278-PCCA-PCCB
Propionic acidemia
P190-CHEK2
Susceptibility to breast cancer; Susceptibility to other cancer types
P319-Thyroid
Thyroid dysgenesis
P098-Wilson disease
Wilson disease
P102-HBB
Beta-thalassemia; Persistence of foetal haemoglobin, hereditary (HPFH); Sickle cell anaemia (SCA); Sickle cell disease (SCD)
ME011-MMR
Mismatch repair genes (MMR)
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