Tests


Test NameNumber of Genes IncludedCategoriesAcceptable Sample TypesPriceCPT CodeTurnaround TimePlatform
FancZoom22 Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)
$2,915814796-8 weeksExome + del/dup analysis
MarrowZoom147*Thrombocytopenia
*MDS and acute leukemia
*Short telomere syndromes
*Diamond-Blackfan anemia and DBA-like hypoplastic anemias
*Fanconi anemia
*Severe cogenital neutropenia
*Sideroblastic anemia
*Familial MPN
*Additional genes
Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)
$2,915814796-8 weeksExome + del/dup analysis
PulmZoom99*Mucociliary disorders
*Interstitial lung disease
*Pulmonary vascular disease
Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)
$2,915814796-8 weeksExome + del/dup analysis
RenalZoom338*Glomerular diseasse and complement genes
*Disorders of ion transport, nephrolithiasis
*CAKUT, ciliopathies, tubulointerstitial disease, and other
Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)
$2,915814796-8 weeksExome + del/dup analysis
TeloZoom15 Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)
$2,915814796-8 weeksExome + del/dup analysis
Clinical Exome Sequencing  Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)
Proband-only $5,600
Duo $6,350
Trio $7,100
Quad $7,850
814156-8 weeksExome + del/dup analysis
Neonatal Respiratory Distress5 Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)
$3,25081479x53 weeksNGS Panel + del/dup analysis
Huntington Disease (HTT)1 Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)
Contact lab for information about prenatal testing
$355814012-3 weeksRepeat sizing
Huntington Disease-like 2 (JPH3)1 Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)
$437814792-3 weeksRepeat sizing
Targeted VariantPlease provide report listing targeted variant information Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)
$350814793 weeksSanger
Prenatal Targeted Variant + Maternal Cell Contamination StudyPlease provide report listing targeted variant information Direct Villi (10mg, cleaned)
Cultured Villi (2 T25 flasks)
Cultured Amniocytes (2 T25 flasks)
Extracted DNA (extracted from a CLIA-certified lab)
Maternal Blood required
$1,350814793 weeksSanger