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Carbohydrate DisordersGlucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Test (1 gene) Comprehensive Glycogen Storage Disease Panel (25 genes) Liver Glycogen Storage Disease Panel (11 genes) Muscle Glycogen Storage Disease Panel (37 genes)
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CiliopathiesCiliopathies Panel (102 genes) Skeletal Ciliopathies Panel (20 genes) Primary Ciliary Dyskinesia Panel (36 genes) Bardet-Biedl Syndrome Panel (16 genes) Joubert and Meckel-Gruber Syndromes Panel (31 genes) Nephronophthisis Panel (27 genes) Polycystic Kidney Disease Type 2 Panel (2 genes)
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Congenital Heart DiseaseCongenital Heart Defects and Heterotaxy Panel (89 genes)
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Cystic FibrosisCystic Fibrosis Test (1 gene)
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Developmental DisordersAlpha Thalassemia X-linked Intellectual Disability Test (1 gene) Baraitser-Winter Cerebrofrontofacial Syndrome Panel (2 genes) Branchiootorenal Spectrum Disorders Panel (2 genes) CHARGE Syndrome Test (1 gene) Cornelia de Lange Syndrome Panel (7 genes) Glass Syndrome Test (1 gene) Kabuki Syndrome Panel (2 genes) KAT6B-Related Disorders Test (1 gene) PTEN-Related Disorders Test (1 gene)
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Disorders of Sex Development/EndocrinologyDisorders of Male Sex Development Panel (15 genes) Disorders of Female Sex Development Test (1 gene) Androgen Insensitivity Panel (2 genes) Isolated Gonadotropin-Releasing Hormone Deficiency Syndrome Panel (3 genes)
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Epilepsy, Seizures, and Developmental Brain Abnormalities"Epilepsy Panel (192 genes) Alternating Hemiplegia of Childhood Panel (2 genes) Early Infantile Epileptic Encephalopathy Panel (69 genes) Holoprosencephaly Panel (10 genes) Rett and Angelman Syndromes and Related Disorders Panel (28 genes) Tuberous Sclerosis Complex Panel (2 genes)
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Lysosomal Storage DisordersComprehensive Lysosomal Storage Disorders Panel (53 genes) Comprehensive Mucopolysaccharidoses (MPS) Panel (23 genes) Pompe Disease Test (1 gene)
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Metabolic Disorders Newborn Screening ConfirmationMetabolic Disorders Newborn Screening Confirmation Panel (93+152 genes) Lysosomal Storage Disorders Newbornb Screening Panel (6 genes)
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Neuromuscular DisordersComprehensive Neuromuscular Disorders Panel (123 genes) Comprehensive Muscular Dystrophy Panel (56 genes) Comprehensive Myopahty Panel (53 genes) Spinal Muscular Atrophy Panel (2 genes)
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Neuropathies and Related DisordersComprehensive Neuropathies Panel (83 genes) Charcot-Marie-Tooth Disease Comprehensive Panel (45 genes) Spinal Muscular Atrophy Panel (2 genes) Hereditary Spastic Paraplegia Comprehensive Panel (65 genes)
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RASopathies (Noonan spectrum disorders)RASopathies Comprehensive Panel (18 genes) Cardio-Facio-Cutaneous Syndrome Panel (6 genes) Neurofibromatosis Type 1 Test (1 genes) Noonan Syndrome Panel (16 genes)
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Skeletal DisordersCraniosynostosis Panel (11 genes) Hereditary Multiple Osteochondromas Panel (3 genes) Skeletal Ciliopathies Panel (20 gense)
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ExomeWhole Exome Sequencing - Proband Whole Exome Sequencing - Duo Whole Exome Sequencing - Trio
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