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- Apolipoprotein C-II Deficiency
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- Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel
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- Noonan Spectrum Disorders/Rasopathies NGS panel
- Pulmonary Arterial Hypertension NGS panel
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- Short QT Syndrome NGS panel
- Statin-Induced Myopathy
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- Whole Exome Sequencing
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- Amyotrophic Lateral Sclerosis NGS panel
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- Brunner Syndrome
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- Fragile X Syndrome
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- Malignant hyperthermia NGS panel
- Menkes Disease
- Metabolic Myopathy and Rhabdomyolysis
- Mitochondrial Diseases
- Myotonia Congenita
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- Neurodegeneration with Brain Iron Accumulation NGS panel
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- Parkinson Disease NGS panel
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- Requirements for Prenatal testing
- Smith-Lemli-Opitz Syndrome
- Spinocerebellar ataxia type 12
- Tuberous Sclerosis NGS panel
- Unverricht-Lundborg disease
- Whole Exome Sequencing
- Wilson Disease
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- Melanoma NGS panel
- Microsatellite instability testing
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- Von Hippel-Lindau Disease
- Whole Exome Sequencing
- Whole Exome Sequencing
- Asper Ophthalmics
- Achromatopsia NGS panel
- Age-Related Macular Degeneration – AMD
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- Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis NGS panel
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- Choroideremia
- Congenital Fibrosis of Extraocular Muscles NGS panel
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- Eye Diseases NGS panel of 294 genes
- Glaucoma
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- Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
- Papillorenal Syndrome
- Requirements for Prenatal testing
- Retinoblastoma
- Senior-Loken Syndrome
- Vitreoretinopathy NGS panel
- Whole Exome Sequencing
- X-Linked Retinoschisis
- Optic Atrophy
- Autosomal Dominant Retinitis Pigmentosa
- Autosomal Recessive Retinitis Pigmentosa
- Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
- Cone-Rod Dystrophy
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- Usher Syndrome
- Vitelliform Macular Dystrophy
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- Alport Syndrome NGS panel
- Aminoglycoside-Induced Deafness
- Branchiootorenal Syndrome NGS panel
- Jervell and Lange-Nielson Syndrome
- Mitochondrial Diseases
- Pendred Syndrome
- Proovimaterjal sünnieelseks testimiseks
- Requirements for Prenatal testing
- Sensorineural Hearing loss NGS panel
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- Whole Exome Sequencing
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- Fragile X Syndrome
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- Maternal Cell Contamination
- Primary Ciliary Dyskinesia NGS panel
- Requirements for Prenatal testing
- Requirements for SLOS Prenatal testing
- Whole Exome Sequencing
- Carrier Testing NGS panel
- List of diseases covered by Cornelia de Lange Syndrome NGS panel
- List of non-coding variants covered by Cornelia de Lange Syndrome NGS panel
- List of diseases covered by Craniosynostosis NGS panel
- List of diseases covered by Microcephaly NGS panel
- List of non-coding variants covered by Microcephaly NGS panel
- List of non-coding variants covered by Tuberous Sclerosis NGS panel
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