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Tests

Test NameNumber of Genes IncludedConditions IncludedAcceptable Sample TypesPriceCPT CodeTurnaround TimePlatform
CraniofacialZoom45 Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)		$2,915814176-8 weeksExome + del/dup analysis
FancZoom22 Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)		$2,915814176-8 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)		$2,915814176-8 weeksExome + del/dup analysis
NeuromuscularZoom251*Myopathy
*Charcot-Marie-Tooth
*Hereditary spastic paraplegia		Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)		$2,915814176-8 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)		$2,915814176-8 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)		$2,915814176-8 weeksExome + del/dup analysis
SkeletalZoom24*Short-rib polydactyly
*Skeletal ciliopathies		Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)		$2,915814176-8 weeksExome + del/dup analysis
Stickler22qZoom10*Stickler syndrome
*22q11 deletion syndrome		Blood (3-6ml EDTA)
Saliva (Oragene 500 or 600)
Cultured Fibroblasts (T75 flask)
Extracted DNA (extracted from a CLIA-certified lab)		$2,915814176-8 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)		$2,915814176-8 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		81415
81416		6-8 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