Test by Medical Condition

16p11.2 Deletion Syndrome

1p36 Deletion Syndrome

1q21 Deletion Syndrome

1q21 Duplication Syndrome

Abnormal Movements


Acro-Renal-Ocular Syndrome (AROS)

Acute Megakaryoblastic Leukemia

Alagille Syndrome

Aminoglycoside-Induced Hearing Loss

Angelman Syndrome

Apert Syndrome

Athabaskan Brainstem Dysgenesis Syndrome (ABDS)

Atypical Angelman/Rett Syndrome

Atypical Rett Syndrome

Autism Spectrum Disorders

Autosomal Recessive Non-Syndromic Deafness (DFNB4)

Axillary and Inguinal Freckling

Bannayan-Riley-Ruvalcaba (BRR)

Beare-Stevenson Syndromes

Bilateral Frontoparietal Polymicrogyria (BFPP)

Bosley-Salih-Alorainy Syndrome (BSAS)

Café au Lait Spots

Characteristic Facial Features

Charcot-Marie-Tooth Type 1A (CMT1A)

CHARGE Syndrome

Childhood Absence Epilepsy

Cleft Palate with Ankyloglossia

Cockayne Syndrome (CSA and CSB)

Cognitive Impairment

Congenital Fibrosis of Extraocular Muscles (CFEOM)

Congenital Secretory Chloride Diarrhea

Cowden Syndrome (CS)

Craniosynostosis Syndromes

Crouzon Syndrome


Developmental Delay

Developmental Regression

Diamond-Blackfan Anemia (DBA)

Duane Radial Ray Syndrome (DRRS)

Duane Syndrome

Early-Onset Isolated Febrile Seizures

Early-Onset Seizures

Ehlers Danlos Syndrome Type VII

Familial Juvenile Nephronophthisis

Fanconi Anemia

Fragile X Syndrome

Frontometaphyseal Dysplasia

Frontonasal Dysplasia


Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

Gilbert Syndrome

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)

Hereditary Non-Syndromic Sensorineural Hearing Loss

Holt-Oram Syndrome

Horizontal Gaze Palsy

Hydroxyurea Response




Impaired Ocular Movement

Increased Cardiovascular Risk

Increased Risk of Neural Tube Defects

Increased Risk of Preeclampsia

Infantile Spasms Without Brain Malformations

Intellectual Disability

Iris Lisch Nodules

Iron-Refractory Iron Deficiency Anemia

Isolated Febrile Seizures


Joubert Syndrome

Langer-Giedion Syndrome


Liver Abnormalities



Melnick-Needles Syndrome (MNS)


Mild Dysmorphism

Miller-Dieker Syndrome

Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS)

MTHFR Deficiency/Homocystinuria

Muenke Syndrome

Multiple Discrete Dermal Neurofibromas

Muscular Dystrophy

Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)

Neurofibromatosis 1-like Phenotype

Neurofibromatosis 2 (NF2)

Neuropsychiatric Disorder

Nonsyndromic X-linked Intellectual Disability

Noonan Syndrome (NS)

Oculocutaneous Albinism (OCA)

Oto-Palato-Digital Syndrome Type I

Oto-Palato-Digital Syndrome Type II

Pancreatic Atrophy

Partington Syndrome

Pendred Syndrome with Sensorineural Hearing Loss

Periventricular Nodular Heterotopia (PNH)

Pfeiffer Syndrome

Pitt-Hopkins Syndrome

Popliteal Pterygium Syndrome

Prader-Willi Syndrome

Progressive Scoliosis

Proteus Syndrome (PS)

Proteus-like Syndrome

Proud Syndrome

PTEN Hamartoma Tumor Syndrome (PHTS)

Renal cysts and diabetes syndrome (RCAD)

Rett Syndrome

RSH syndrome

Rubinstein-Taybi Syndrome

Saethre-Chotzen Syndrome (SCS)

Seizure Disorders

Senior-Loken Syndrome 1

Sensorineural Hearing Loss (SNHL)

Severe Congenital Neutropenia/Kostmann Disease

Severe Global Developmental Delay

Smith Magenis Syndrome

Smith-Lemli-Opitz Syndrome (SLOS)

Sotos Syndrome

Spinal Muscular Atrophy (SMA)


Thrombotic Tendency and APC-Resistance


Van der Woude Syndrome (VWS)

Velocardiofacial/DiGeorge Syndrome (DGS/VCFS)

Venous Thrombosis

Williams Syndrome

Wilms Tumor-Aniridia-Genital Anomalies-Retardation (WAGR)

Witkop Syndrome

Wolf-Hirschhorn Syndrome

X-Linked Infantile Spasm Syndrome 2

X-linked Lissencephaly

X-linked Periventricular Heterotopia

Xeroderma Pigmentosum (XP)

XIIIA Deficiency

XIIIB Deficiency