Orphanet: Diagnostik der Methylmalonazidurie mit Homocystinurie Typ cblC, D und F LMBRD1 , MMACHC und MMADHC Gen

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Diagnosis of methylmalonic acidemia with homocystinuria, type cblC, D and F (LMBRD1, MMACHC, MMADHC genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 30/04/2013
  • Phone : 49 (0)381 2036520
  • Additional Phone : -
  • Fax : 49 (0)381 20365219
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Last update: April 2013

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (2)

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.