Gene sequencing panels with the NGS method
Gene sequencing panels with the NGS method (NGS analysis) can be offered to patients who have had amniocentesis or chorionic biopsy.
Provides information about the smallest units of chromosomes –genes. The analysis of 6,700 genes this test can identify monogenic diseases, including hereditary recessive (both parents pass a defective gene to their child, affects 25% of children) and X-linked diseases (mother is a carrier of the disease, affects her sons). These diseases can often not be discovered before birth and present after birth during the first years of a child's life.
The purpose of this analysis is to discover definite or possible disease-related genetic variants that cause serious genetic diseases presenting in childhood. With parents' approval, results are given about secondary findings enabling medical intervention that currently includes 73 genes as well*.
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Incidental findings assessed by gene panel sequencing*
- Familial adenomatous polyposis
- Familial medullary thyroid cancer
- Hereditary breast and/or ovarian cancer
- Hereditary paraganglioma–pheochromocytoma
- syndrome
- Juvenile polyposis syndrome
- Li–Fraumeni syndrome
- Lynch syndrome
- Multiple endocrine neoplasia type 1
- MUTYH-associated polyposis
- Neurofibromatosis type 2
- Peutz–Jeghers syndrome
- PTEN hamartoma tumor syndrome
- Retinoblastoma
- Tuberous sclerosis complex
- von Hippel–Lindau syndrome
- WT1-related Wilms tumor
- Aortopathies
- Arrhythmogenic right ventricular cardiomyopathy
- Catecholaminergic polymorphic ventricular tachycardia
- Dilated cardiomyopathy
- Ehlers–Danlos syndrome, vascular type
- Familial hypercholesterolemia
- Hypertrophic cardiomyopathy
- Long QT syndrome types 1 and 2
- Long QT syndrome
- Biotinidase deficiency
- Fabry disease
- Ornithine transcarbamylase deficiency
- Pompe disease
- Hereditary hemochromatosis
- Hereditary hemorrhagic telangiectasia
- Malignant hyperthermia
- Maturity-onset diabetes of the young (MODY)
- RPE65-related retinopathy
- Wilson disease
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This test examines 25 monogenic diseases assessed in the Vistara test as well as 276 autosomal recessive and X-linked diseases assessed in the Horizon test. It also examines 19 metabolic disorders which newborns are currently being screened for in Estonia.
The study does not provide an answer for spinal muscular atrophy, fragile X syndrome, and Duchenne's and Becker's muscular dystrophies.
The answer to the NGS analysis comes 35 days after the invasive procedure.
The cost of a chorionic biopsy or amniocentesis is added to the price.