Glucose-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)

Ciliopathies 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)

Congenital Heart Defects and Heterotaxy Panel (89 genes)

Cystic Fibrosis Test (1 gene)

Alpha 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)

Disorders 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)

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)

Comprehensive Lysosomal Storage Disorders Panel (53 genes)

Comprehensive Mucopolysaccharidoses (MPS) Panel (23 genes)

Pompe Disease Test (1 gene)

Metabolic Disorders Newborn Screening Confirmation Panel (93+152 genes)

Lysosomal Storage Disorders Newbornb Screening Panel (6 genes)

Comprehensive Neuromuscular Disorders Panel (123 genes)

Comprehensive Muscular Dystrophy Panel (56 genes)

Comprehensive Myopahty Panel (53 genes)

Spinal Muscular Atrophy Panel (2 genes)

Comprehensive 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)

RASopathies Comprehensive Panel (18 genes)

Cardio-Facio-Cutaneous Syndrome Panel (6 genes)

Neurofibromatosis Type 1 Test (1 genes)

Noonan Syndrome Panel (16 genes)

Craniosynostosis Panel (11 genes)

Hereditary Multiple Osteochondromas Panel (3 genes)

Skeletal Ciliopathies Panel (20 gense)

Whole Exome Sequencing - Proband

Whole Exome Sequencing - Duo

Whole Exome Sequencing - Trio