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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessAnencephaly + neural tube-defects; differential diagnosis


Short information

Comprehensive differential diagnostic panel for Anencephaly and neural tube defects comprising 8 or 13 curated genes, respectively, according to the clinical signs

Number of genes
11 Accredited laboratory test
Examined sequence length
15,4 kb (Core-/Core-canditate-Genes)
27,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
MTHFR1971NM_005957.5AD, Ass
MTR3798NM_000254.3AR, Sus
PAX31440NM_181457.4AD, AR

Informations about the disease

Clinical Comment

Anencephaly and neural tube closure defects are complex malformations that are likely caused by the interaction of multiple genetic and environmental factors. Alterations in dozens of genes in fetuses with anencephaly and in their mothers may influence the risk of developing neural tube defects. The best studied gene is MTHFR, which is involved in processing vitamin B9 (folic acid). B9 deficiency is a risk factor for neural tube defects, but many other factors also contribute to folic acid deficiency, including malnutrition. Therefore, the inheritance of neural tube defects and anencephaly is generally multifactorial. Inconspicuous molecular genetic findings tend to be the rule.

Reference: J Dev Biol. 2018 Aug 21;6(3):22. doi: 10.3390/jdb6030022.


  • Alias: Anencephalie + Neuralrohr-Defekte
  • Alias: Spina bifida ("offener Rücken")
  • Allelic: Caudal regression syndrome (VANGL1)
  • Allelic: Combined immunodeficiency + megaloblastic anemia with/-out hyperhomocysteinemia (MTHFD1)
  • Allelic: Coronary artery disease, modifier of (CCL2)
  • Allelic: Craniofacial-deafness-hand syndrome (PAX3)
  • Allelic: HIV-1, resistance to (CCL2)
  • Allelic: Homocystinuria due to MTHFR deficiency (MTHFR)
  • Allelic: Homocystinuria-megaloblastic anemia, cbl E type (MTRR)
  • Allelic: Homocystinuria-megaloblastic anemia, cblG complementation type (MTR)
  • Allelic: Mycobacterium tuberculosis, susceptibility to (CCL2)
  • Allelic: Orofacial cleft 6 (IRF6)
  • Allelic: Rhabdomyosarcoma 2, alveolar (PAX3)
  • Allelic: Schizophrenia, susceptibility to (MTHFR)
  • Allelic: Thromboembolism, susceptibility to (MTHFR)
  • Allelic: Vascular disease, susceptibility to (MTHFR)
  • Hydrolethalus syndrome (HYLS1)
  • Neural tube defects (VANGL2)
  • Neural tube defects, folate-sensitive, susceptibility to (MTHFD1)
  • Neural tube defects, folate-sensitive, susceptibility to (MTR)
  • Neural tube defects, folate-sensitive, susceptibility to (MTRR)
  • Neural tube defects, susceptibility to (FUZ)
  • Neural tube defects, susceptibility to (MTHFR)
  • Neural tube defects, susceptibility to (TBXT, T)
  • Neural tube defects, susceptibility to (VANGL1)
  • Popliteal pterygium syndrome 1 (IRF6)
  • Sacral agenesis with vertebral anomalies (TBXT, T)
  • Spina bifida, susceptibility to (CCL2)
  • Waardenburg syndrome, type 1 (PAX3)
  • Waardenburg syndrome, type 3 (PAX3)
  • van der Woude syndrome 1 (IRF6)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Ass
  • Sus
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined