Short stature and tall stature as well as microcephaly and macrocephaly can have different genetic causes. Therefore, the diagnostic procedure depends on the patient’s symptoms.

Short stature

• A distinction can be made between endocrine (growth hormone deficiency), skeletal (e.g. spondyloepiphyseal dysplasia, hypo-/achondroplasia) and syndromic short stature (e.g. Noonan syndrome). We offer panels for these etiologies.
• If Turner syndrome (monosomy X) is suspected chromosomal analysis should be performed.
• When analyzing the CDKN1C and SHOX genes, in addition to sequencing, we perform MLPA analysis to exclude common deletions.
• If Silver-Russel or Prader-Willi syndrome is suspected, we perform a methylation-sensitive MLPA.

Macrosomia / Tall stature

• We offer a general macrosomia panel as well as specific panels for Marfan and Sotos syndrome.
• Beckwith-Wiedemann syndrome should be tested by methylation-sensitive MLPA as well as sequencing.

Hemihypertrophy/Segmental Overgrowth

• Hemihypertrophy can occur, for example, in the context of Beckwith-Wiedemann, Proteus, or Silver-Russell syndrome. It is typical in Klippel-Trénaunay syndrome.
• If a genetic variant cannot be detected from blood (in the case of somatic mosaicism), analysis from an affected area or from another tissue is an option.

Extensive and updated daily: Our gene panels