Constitutional Mismatch Repair Deficiency Syndrome / Bloom syndrome - KUL

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Full name:	Constitutional Mismatch Repair Deficiency Syndrome / Bloom syndrome - KUL
Abbreviation:	CMMRD
Provider:	Agilent
Version number:	HaloPlex panel (Agilent, custom design v2). Last update : 15/09/2020
Laboratory:	Centrum Menselijke Erfelijkheid - KUL
Created:	28 Jun 2019 - 10:30
Changed:	07 Sep 2022 - 14:03

Related Diseases

• Bloom syndrome
• Constitutional mismatch repair deficiency syndrome
• Lynch syndrome

Related Analytes

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
BLM	100.00	1
MLH1	100.00	1
MSH2	100.00	1
MSH6	100.00	1
PMS2	100.00	1