Methods

A

• Achondroplasia
• Adrenogenital syndrome (AGS)
  • Adrenogenital syndrome, 11-beta-hydroxylase deficiency
  • Adrenogenital syndrome, 17-alpha-hydroxylase deficiency
  • Adrenogenital syndrome, 21-hydroxylase deficiency
  • Adrenogenital syndrome, 3-beta-hydroxysteroid dehydrogenase deficiency, type II
  • Congenital adrenal hyperplasia, NGS panel
  • Adrenogenital syndrome, POR deficiency POR deficiency, disordered steroidogenesis due to cytochrome P450 oxidoreductase
• Androgen receptor (DHTR)
• Arachnodactyly, contractural congenital (CCA, Beals syndrome)
• AZF deletions (microdeletions Y-linked)
• Acidosis, distal renal tubular (dRTA)

C

• Postnatal diagnostics
• Cystic fibrosis (CF) / Mucoviscidosis

D

• Diabetes and deafness, maternally inherited (MIDD)
• DSD / Disorders of sexual development
  • 17-beta hydroxysteroid dehydrogenase III deficiency, 46,XY DSD
  • 46,XX Disorders of Sexual Development, NGS panel
  • 46,XY Disorders of Sexual Development, NGS panel
  • Androgen receptor deficiency, Androgen insensitivity syndrome, 46,XY
  • Antley-Bixler syndrome
  • Fraser syndrome, NGS panel
  • Hand foot genital syndrome, NGS panel
  • Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), NGS panel
  • POR deficiency / disordered steroidogenesis due to cytochrome P450 oxidoreductase
  • Steroid-5-alpha reductase deficiency, 46,XY DSD
• ABCC2 for Dubin-Johnson syndrome
• Dyskinesia, primary ciliary / PCD

F

• Fragile X syndrome (FRAXA)

H

• Hyperparathyroidism, neonatal severe (NSHPT)
• Hyperparathyroidism-jaw tumor syndrome, CDC73 (HRPT2)
• Hyperthyroidism, isolated (TSHR)
• Hypochondroplasia
• Hypogonadismus, hypergonadotroper
  • Hypergonadotropic hypogonadism: FSH receptor
  • Hypergonadotropic hypogonadism: LHCG receptor
• Hypogonadismus, hypogonadotroper
  • Hypogonadotropic Hypogonadism, NGS panel
  • Hypogonadotropic hypogonadism type 1, Kallmann syndrome 1
  • Hypogonadotropic hypogonadism type 2, Kallmann syndrome 2
  • Hypogonadotropic hypogonadism type 3, Kallmann syndrome 3
  • Hypogonadotropic hypogonadism type 4, Kallmann syndrome
  • Hypogonadotropic hypogonadism type 7, Gonadotropin-releasing hormone receptor
• Hypercalcemia, autosomal dominant (ADH) / familial isolated hypoparathyroidism (FIH)
• Hypocalciuric hypercalcemia, familial (FHH) / Hypercalcemia, familial benign (FBH)
• Pituitary adenomas, familial (AIP)

K

• Calcium-sensing receptor mutations (CASR)

M

• MODY (Maturity-onset diabetes of the young), single gene analysis
  • 1. MODY3: HNF1A gene (HNF1A-MODY)
  • 2. MODY2: Glucokinase gene (GCK-MODY)
  • 3. MODY1: HNF4A gene (HNF4A-MODY)
  • 4. MODY5: HNF1B gene (HNF1B-MODY, Renal Cysts and Diabetes Syndrome, RCAD)
  • 5. MODY4: PDX1 gene (PDX1-MODY)
• MODY (Maturity Onset Diabetes of the Young), NGS panel
• Multiple endocrine neoplasia type I, MEN1
• Multiple endocrine neoplasia type II, MEN2

N

• Neurofibromatosis type 1 (NF1) / Von Recklinghausen disease

P

• Pheochromocytoma / Paraganglioma syndrome PGL1, PGL3 and PGL4
• Pheochromocytoma (PC)
• Prader-Willi syndrome (PWS)
• Proopiomelanocortin deficiency

V

• Von Hippel-Lindau syndrome (VHL)