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Experting Reproductive Genetics

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Metabolic Diseases

Mikrogen > Genetic Tests > Metabolic Diseases
Metabolic Diseases

Peroxisomal Biogenesis Disorder

Metabolic Diseases

Refsum’s Disease

Metabolic Diseases

Zellweger Syndrome Panel (12 Genes)

Metabolic Diseases

Urea Cycle Defect Panel (6 Genes)

Metabolic Diseases

Ceroid Lipofuscinosis Panel (13 Genes)

Metabolic Diseases

Obesity Panel (40 Genes)

Metabolic Diseases

Non-Ketotic Hyperglycinemia Panel (3 Genes)

Metabolic Diseases

Niemann-Pick Disease Panel (3 Genes)

Metabolic Diseases

Mucopolysaccharidosis Panel (12 Genes)

Metabolic Diseases

Methylmalonic Acidemia Panel (15 Genes)

Metabolic Diseases

Maple Syrup Urine Disease Panel (3 Genes)

Metabolic Diseases

Glycogen Storage Disease Panel (25 Genes)

Metabolic Diseases

Galactosemia Panel (3 Genes)

Metabolic Diseases

Atherosclerosis Panel (20 Genes)

Metabolic Diseases

Congenital Adrenal Hyperplasia (11B – Hydroxylase lack)

Metabolic Diseases

Congenital Adrenal Hyperplasia (21 Hydroxylase Deficiency) MLPA

Metabolic Diseases

Congenital Adrenal Hyperplasia (21 Hydroxylase Deficiency)

Metabolic Diseases

Congenital Adrenal Hyperplasia (17α – Hydroxylase Deficiency)

Metabolic Diseases

Primary Hyperoxaluria Type 3

Metabolic Diseases

Glycogen Storage Disease Type 0B

Metabolic Diseases

Glycogen Storage Disease Type 0A

Metabolic Diseases

Galactose Epimerase Deficiency

Metabolic Diseases

Congenital Adrenal Hyperplasia 3-Beta-Hydroxylase

Metabolic Diseases

Familial Arterial Tortuosity Syndrome

Metabolic Diseases

Mucopolysaccharidosis Type 9

Metabolic Diseases

Primary Hyperoxaluria Type 2

Metabolic Diseases

Renal Hypouricemia Type 2

Metabolic Diseases

Familial Hypercholesterolemia Type 3

Metabolic Diseases

sitosterelomy

Metabolic Diseases

Pyruvate Kinase Deficiency

Metabolic Diseases

hyperglycinemia

Metabolic Diseases

Lipoprotein A (LPA Exon 1-39) Panel

Metabolic Diseases

Cystinuria

Metabolic Diseases

Creatine Synthesis Disorder 2

Metabolic Diseases

Folate transport deficiency

Metabolic Diseases

Transcobalamin II Deficiency

Metabolic Diseases

Short Chain AD (SCAD)

Metabolic Diseases

Peroxisomal Fat – acyl Coa Reductase FAR1 (12 exons)

Metabolic Diseases

Galactosemia Type 2 (GALK1 Whole Gene Sequence Analysis)

Metabolic Diseases

Fructose Intolerance (ALDOB Whole Gene Sequence Analysis)

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  • Skeletal, Connective Tissue and Skin Diseases
  • Endocrine Diseases
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