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

IllnessHypoparathyroidism, familial; differential diagnosis


Short information

Comprehensive differential diagnostic panel for familial Hypoparathyroidism comprising 5 guideline-curated core genes and altogether11 curated genes

Number of genes
9 Accredited laboratory test
Examined sequence length
13,1 kb (Core-/Core-canditate-Genes)
- (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
AIRE1638NM_000383.4AD, AR
CASR3237NM_000388.4AD, AR
GCM21521NM_004752.4AD, AR
PTH348NM_000315.4AD, AR

Informations about the disease

Clinical Comment

Heterogeneous group of metabolic disorders with abnormal calcium metabolism due to deficient secretion of parathormone, without other endocrine disorders or developmental defects


  • Alias: Hyperparathyroidism, neonatal
  • Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
  • Allelic: Conotruncal anomaly face syndrome (TBX1)
  • Allelic: DiGeorge syndrome (TBX1)
  • Allelic: Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
  • Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
  • Allelic: Hyperparathyroidism 4 (GCM2)
  • Allelic: Hypocalcemia, AD (CASR)
  • Allelic: Hypocalcemia, AD, with Bartter syndrome (CASR)
  • Allelic: Hypocalciuric hypercalcemia, type I (CASR)
  • Allelic: Hypocalciuric hypercalcemia, type II (GNA11)
  • Allelic: Kenny-Caffey syndrome, type 1 (TBCE)
  • Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
  • Allelic: Osseous heteroplasia, progressive (GNAS)
  • Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
  • Allelic: Tetralogy of Fallot (TBX1)
  • Allelic: Velocardiofacial syndrome (TBX1)
  • Autoimmune polyendocrinopathy syndrome , type I, with/-out reversible metaphyseal dysplasia (AIRE)
  • Hyperparathyroidism, neonatal (CASR)
  • Hypocalcemia, AD 2 (GNA11)
  • Hypoparathyroidism, familial isolated 1 (PTH)
  • Hypoparathyroidism, familial isolated 2 (GCM2)
  • Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA3)
  • Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
  • Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
  • Pseudohypoparathyroidism, type IB (STX16)
  • Pseudopseudohypoparathyroidism (GNAS)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined