Test by Medical Condition
16p11.2 Deletion Syndrome
1p36 Deletion Syndrome
1q21 Deletion Syndrome
1q21 Duplication Syndrome
Abnormal Movements
Achondroplasia
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
- PTEN Deletion/Duplication
- PTEN Sequencing
- NLGN3 Sequencing
- NLGN4 Sequencing
- CDKL5 Sequencing
- 16p11.2 Deletion/Duplication
- 15q13.2-q13.3 Deletion/Duplication
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
- TWIST1 Sequencing
- TWIST1 Deletion/Duplication
- Pfeiffer syndrome FGFR1 Mutation Analysis
- Muenke Syndrome Mutation Analysis
- FGFR2 Sequencing
- Crouzon Syndrome with Acanthosis Nigricans Mutation Analysis
- Apert Mutation Analysis
Crouzon Syndrome
Custom
- Targeted Mutation Analysis/Specific Mutation Confirmation
- Specific Mutation Confirmation/Targeted Mutation Analysis
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
ELANE-Related Neutropenia
Familial Juvenile Nephronophthisis
Fanconi Anemia
FGFR-related Isolated Coronal Synostosis
Fragile X Syndrome
Frontometaphyseal Dysplasia
Frontonasal Dysplasia
Galactosemia
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
Hyperhomocysteinemia
Hypochondroplasia
Hypotonia
Impaired Ocular Movement
Increased Cardiovascular Risk
Increased Risk of Neural Tube Defects
Increased Risk of Preeclampsia
Infantile Spasms Without Brain Malformations
Intellectual Disability
- SYNGAP1 Sequencing
- NLGN3 Sequencing
- NLGN4 Sequencing
- 15q13.2-q13.3 Deletion/Duplication
- CDKL5 Sequencing
Iris Lisch Nodules
Iron-Refractory Iron Deficiency Anemia
Isolated Febrile Seizures
Jackson-Weiss
Joubert Syndrome
Langer-Giedion Syndrome
Lissencephaly
Liver Abnormalities
Macrocephaly
Many
Melnick-Needles Syndrome (MNS)
Microcephaly
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)
- MERRF Mutation Analysis
- Mitochondrial tRNA-Ser Mutations
- Mitochondrial tRNA-Leu Mutations
- Mitochondrial tRNA-Lys Mutations
- GJB2 Sequencing
- GJB6 Deletion
