Endocrinology

None

Product	Type of test	Genes
Familial Hypercholesterolemia	Gene NGS	LDLR
3-hydroxyacyl-CoA dehydrogenase deficiency	Gene NGS	HADH
Acquired partial lipodystrophy...	Gene NGS	LMNB2
Adrenal hyperplasia, congenital, due to...	Gene NGS	HSD3B2
Autoimmune polyendocrinopathy syndrome...	Gene NGS	AIRE
Benign familial hypobetalipoproteinemia	Gene NGS	APOB
Berardinelli-Seip Congenital Lipodystrophy	Gene NGS	BSCL2
Carney complex	Gene NGS	PRKAR1A
Cartilage-hair hypoplasia	Gene NGS	RMRP
Combined pituitary hormone deficiency	NGS Panel	LHX3, LHX4, PROP1
Congenital hypothyroidism	Gene NGS	PAX8
Congenital hypothyroidism	Gene NGS	FOXE1
Congenital hypothyroidism	Gene NGS	DUOX1
Congenital hypothyroidism	Gene NGS	DUOXA2
Congenital hypothyroidism	Gene NGS	DEHAL1
Congenital hypothyroidism	Gene NGS	TSHB

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