Specific Mutation Analysis

Tests 
Alagille AMPLIFIED™
Alpha-1-Antitrypsin Deficiency
Amyotrophic Lateral Sclerosis (ALS)
Angelman Syndrome
Angelman-like Syndrome, X-Linked
APC Amplified
Beta Thalassemia Plus (Sickle Cell Anemia, Sickle-Beta Thalassemia)
Biotinidase Deficiency
BreastNext
Canavan Disease
Canavan Gene Sequence and Deletion/Duplication Analysis
CancerNext
Carnitine Palmitoyltransferase II Deficiency
CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome)
Cerebral Cavernous Malformations (CCM)
CHARGE Syndrome
CHEK2-Related Cancer
ColoNext
Congenital Central Hypoventilation Syndrome
Congenital Hyperinsulinism, KCNJ11-Related Diabetes
Cystic Fibrosis Testing
Cystic Fibrosis
Diamond-Blackfan Anemia
DICER1 Genetic Mutation Analysis
Dyskeratosis Congenita
Fabry Disease
Familial Hypercholesterolemia
Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis)
FRAXE (FMR2) DNA Analysis
Gaucher Disease
Gaucher Disease
GLUD1 (Hyperinsulinism-Hyperammonemia Syndrome, Congenital Hyperinsulinism)
Glutaric Acidemia Type 1
Glutathione synthetase deficiency (GS)
Glycogen Storage Disease Types 1A & 1B
HAE AMPLIFIED (SERPING1)
Hereditary Diffuse Gastric Cancer
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC)
Hereditary Thymine-Uraciluria / Dihydropyrimidine dehydrogenase deficiency (DPYD)
HHT Sequencing, Del/Dup & SMAD4-Related HHT
HNPCC / Lynch syndrome DNA Analysis
Hunter Syndrome
Hurler Syndrome
Idiopathic Pulmonary Fibrosis (IPF Telomerase)
INS-Related Diabetes, Neonatal Diabetes (INS-Related)
Juvenile Polyposis AMPLIFIED™
LEOPARD Syndrome
Li-Fraumeni Syndrome (TP53 AMPLIFIED)
Malignant Melanoma CDKN2A(p16INK4a)/ARF(p14ARF)
Mucolipidosis Type IV
Multiple Endocrine Neoplasia Type 2 (MEN2)
Multiple Endocrine Neoplasia Type1 (MEN1)
MUTYH-associated Polypsis (MAP)
Niemann-Pick Disease Types A & B
Noonan Syndrome and Noonan/LEOPARD Syndrome
OvaNext
PAH AMPLIFIED™ (Pulmonary Arterial Hypertension)
PALB2-Related Cancer
Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence)
Peutz-Jeghers AMPLIFIED™
Phenylketonuria-PKU
Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome
Pompe Disease
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
PTEN-Related Disorders (including Autism Spectrum Disorder)
RET-Related Hirschsprung Disease
Retinoblastoma
Shwachman-Diamond Syndrome
Smith-Lemli-Opitz Syndrome (SLOS)
Tay-Sachs Disease
Tay-Sachs Plus
Thrombophilia FlexPanel
Transthyretin Amyloidosis
Von Hippel-Lindau Disease
Wilson Disease
PTCH1/Nevoid Basal Cell-Carcinoma Syndrome
Neurofibromatosis Type 1 and Legius Syndrome
ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility