Pediatric Health

PANEL/TEST

GENES COVERED

Epilepsy Panel 

320 genes

Chronic Pancreatitis Panel 

6 genes 

Pediatric Solid Tumors Panel 

54 genes

Overgrowth Syndrome Panel 

53 genes 

Overgrowth and Macrocephaly Syndromes Panel

26 genes

Simpson-Golabi-Behmel Syndrome Test 

1 gene

Weaver Syndrome Test 

1 gene

Septo-optic Dysplasia Panel 

8 genes 

Leukodystrophy and Genetic Leukoencephalopathy Panel 

729 genes 

Cerebral Palsy Spectrum Disorders Panel 

424 genes

Brain Malformations Panel 

163 genes

Baraitser-Winter Cerebro-frontofacial Syndrome Panel 

2 genes

Cerebral Cavernous Malformations Panel 

3 genes 

Holoprosencephaly Panel 

10 genes 

Rett and Angelman Syndrome and Related Disorders Panel 

40 genes

Tuberous Sclerosis Complex Panel 

2 genes

Neonatal Respiratory Distress Syndrome

111 genes

Ciliopathies Panel 

174 genes

Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel 

72 genes

Primary Ciliary Dyskinesia Panel 

42 genes

Bardet-Biedl Syndrome

28 genes

Joubert and Meckel-Gruber Syndromes Panel 

31 genes

Nephronophthisis Panel 

27 genes

RASopathies and Noonan Spectrum Disorders

28 genes

Cardio-Facio-Cutaneous Syndrome Panel 

6 genes 

Legius Syndrome Test 

2 genes

Neurofibromatosis Type 1 Test 

2 genes

Cystic Fibrosis Test 

1 gene

Facial Dysostosis and Frontonasal Dysplasia Panel 

28 genes 

Alagille Syndrome Panel 

2 genes 

Alpha Thalassemia X-Linked Intellectual Disability Test 

1 gene

Carpenter Syndrome Panel 

2 genes 

Coffin-Lowry Syndrome Test

1 gene

Cohen Syndrome Test 

1 gene 

Cornelia de Lange Syndrome and Related Disorders Panel 

31 genes 

Hypogonadism Panel 

46 genes 

Kabuki Syndrome Panel 

2 genes 

KBG Syndrome Test 

1 gene 

Oculo-Facio-Cardio-Dental Syndrome Test 

1 gene 

Rubinstein-Taybi Syndrome Panel 

2 genes 

Van der Woude Syndrome Panel 

2 genes 

Hypopigmentation Panel

47 genes 

Adams-Oliver Syndrome Panel 

8 genes 

Epidermolysis Bullosa and Palmoplantar Keratoderma Panel 

46 genes 

Congenital Ichthyosis Panel 

46 genes 

Oculocutaneous Albinism Panel 

23 genes 

Xeroderma Pigmentosum Panel 

9 genes 

Ectodermal Dysplasia and Related Disorders Panel 

73 genes 

Congenital Stationary Night Blindness Panel 

22 genes 

Corneal Dystrophies Panel 

33 genes 

Achromatopsia Panel 

8 genes 

Macular Dystrophy Panel 

36 genes 

Alport Syndrome Panel 

6 genes 

Stickler Syndrome Panel 

9 genes 

Glaucoma Panel 

27 genes 

Inherited Retinal Disorders Panel 

330 genes 

Cataracts Panel 

107 genes 

Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel

81 genes 

Congenital Heart Defects and Heterotaxy Panel

82 genes 

Disorders of Sex Development Panel

53 genes 

Disorders of Female Sex Development Test

1 gene

Androgen Insensitivity Panel

2 genes 

Microcephalic Primordial Dwarfism and Seckel Syndrome Panel

38 genes 

Spondylocostal Dysostosis Panel

8 genes 

Limb and Digital Malformations Panel

177 genes 

X-Linked Hypophosphatemia Test

1 gene 

Hypophosphatemia Panel

17 genes

Skeletal Disorders Panel

358 genes 

Antley-Bixler Syndrome Test

2 genes 

ARSE-Related Chondrodysplasia Punctata Test

2 genes 

Campomelic Dysplasia Test

1 gene 

Craniosynostosis Panel

67 genes 

Ellis-van Creveld and Weyers Acrofacial Dysostosis Panel

2 genes

Hereditary Multiple Osteochondromas Panel

3 genes 

Osteogenesis Imperfecta and Bone Fragility Panel

67 genes

Trichorhinophalangeal Syndrome Panel

2 genes

Neurodevelopmental Disorders (NDD) Panel

241 genes 

Surfactant Metabolism Panel

21 genes 

Comprehensive Deafness Panel

224 genes 

Usher Syndrome Panel

17 genes 

Renal Tubular Disorders Panel

39 genes 

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel

41 genes 

Nephrotic Syndrome and Focal Segmental Glomerulosclerosis (FSGS) Panel

57 genes

Cystic Kidney Disease Panel

44 genes 

Expanded Renal Disease Panel

401 genes 

Progressive Renal Disease Panel

195 genes 

Connective Tissue Disorders Panel

92 genes