Hereditary Polyposis Panel (11 genes) - ULG

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Full name:	Hereditary Polyposis Panel (11 genes) - ULG
Abbreviation:	HPP
Type of panel:	Custom panel
Provider:	Twist Bioscience
Quality coverage:	30x
Laboratory:	Centre de Génétique Humaine - CHU Sart-Tilman
Created:	22 Mar 2022 - 11:54
Changed:	15 Dec 2022 - 11:17

Related Diseases

• APC-related attenuated familial adenomatous polyposis
• Familial adenomatous polyposis
• Familial adenomatous polyposis due to 5q22.2 microdeletion
• Gardner syndrome
• Gastric adenocarcinoma and proximal polyposis of the stomach
• Generalized juvenile polyposis/juvenile polyposis coli
• Hereditary mixed polyposis syndrome
• Juvenile polyposis of infancy
• MSH3-related attenuated familial adenomatous polyposis
• MUTYH-related attenuated familial adenomatous polyposis
• NTHL1-related attenuated familial adenomatous polyposis
• Peutz-Jeghers syndrome
• Polymerase proofreading-related adenomatous polyposis
• Turcot syndrome with polyposis

Related Analytes

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
APC	100.00	1	CNV assessed by MLPA
BMPR1A	100.00	0
GREM1	100.00	1	CNV assessed by MLPA (Probes for the upstream region in the SALSA MLPA P043 APC kit)
MSH3	100.00	0
MUTYH	100.00	1	CNV assessed by MLPA (Probes for Exons 1, 2, 11, 16 in the SALSA MLPA P043 APC kit)
NTHL1	100.00	0
POLD1	100.00	0
POLE	100.00	0
PTEN	100.00	1	CNV assessed by MLPA (on demand)
SMAD4	100.00	0
STK11	100.00	0