METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other
Aldosteronism
Ambiguous Genitalia
Combined Pituitary Hormone Deficiency
Congenital Adrenal Hyperplasia
Diabetes Insipidus
Disorders of Sex Development
Female Infertility
Hypercalcemic and Hypocalcemic Disorders
Hypercholesterolemia
Hyperinsulinism
Hypoglycemia
Hypoparathyroidism
Hypophosphatasia (HPP)
Hypospadias
Hypothyroidism
Kenny-Caffey Syndrome
Lipodystrophy
Male Infertility
Maturity-Onset Diabetes Of The Young
Meier-Gorlin Syndrome
Milroy Disease (Lymphedema Type I)
Multiple Endocrine Neoplasia
Obesity
Pancreatitis
Paraganglioma-Pheochromocytoma Syndrome
Premature Ovarian Failure (POF)
Septo-optic Dysplasia
Shwachman-Diamond Syndrome
Thyroid Hormone Resistance
Von Hippel-Lindau Disease
Warburg Micro Syndrome
Wolfram Syndrome
METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other