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פאנלים
Hypoglycemia and hyperinsulinisim
GC_35
Last update: 19.01.2026
Monogenic disorders of glucose homeostasis comprise a heterogeneous group of endocrine and metabolic diseases that may cause recurrent or persistent hypoglycemia, particularly during infancy and childhood. Clinical manifestations may include hyperinsulinism, seizures, lethargy, developmental delay, fasting intolerance, and other metabolic abnormalities.
This panel includes genes associated with congenital hyperinsulinism as well as other inherited causes of hypoglycemia, including glycogen storage diseases, fatty acid oxidation defects, gluconeogenesis disorders, endocrine disorders, and selected metabolic diseases.
This panel is recommended for patients with recurrent, persistent, or severe hypoglycemia, documented or suspected hyperinsulinism, or otherwise unexplained hypoglycemic episodes when an inherited endocrine or metabolic disorder is suspected.
AAAS, ABCC8, ABCD1, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACSF3, ADK, AGL, AKT2, ALDOA, ALDOB, ALG3, ALG6, BCKDHA, BCKDHB, BTD, CA5A, CACNA1C, CACNA1D, CDKN1C, COG7, CPT1A, CPT2, CYP7B1, DBH, DBT, DDC, DGUOK, DLD, DMXL2, DOLK, ENO3, EPM2A, ETFA, ETFB, ETFDH, FAH, FBP1, FLAD1, FOXA2, G6PC1, GAA, GALE, GALK1, GALT, GBE1, GCK, GH1, GHR, GLUD1, GPC3, GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HESX1, HK1, HLCS, HMGCL, HMGCS2, HNF1A, HNF4A, HRAS, HSD3B7, INSR, IVD, KCNJ11, KDM6A, KMT2A, KMT2D, LAMP2, LDHA, LHX3, MAGEL2, MCEE, MLYCD, MMUT, MPI, MPV17, NADK2, NHLRC1, NNT, NR0B1, NR3C1, NSD1, OPLAH, OTX2, OXCT1, PC, PCCA, PCCB, PCK1, PCK2, PCSK1, PDX1, PFKM, PGAM2, PGK1, PGM1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PMM2, POMC, PRKAG2, PRKAG3, PROP1, PTF1A, PYGL, PYGM, RBCK1, SERAC1, SLC16A1, SLC22A5, SLC25A20, SLC25A32, SLC2A2, SLC37A4, SLC52A1, SLC52A2, SLC52A3, SOX2, SOX3, TAFAZZIN, TANGO2, TBX19, TRMT10A, UCP2
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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