Home > DNA Diagnostic Laboratory > Tests
 

Tests

ZoomsExomeTargeted
CraniofacialZoom
FancZoom
LowBoneDensityZoom
MarrowZoom
NeuromuscularZoom
PulmZoom
RenalZoom
SkeletalZoom
Stickler22qZoom
TeloZoom*
ZoomOut - Analysis Only		Clinical Exome Sequencing
Clinical Exome Reanalysis		Huntington Disease (HTT)
Huntington Disease-like 2 (JPH3)
Targeted Variant
Prenatal Targeted Variant + Maternal Cell Contamination Study
Maternal Cell Contamination Study Only

*Please note that TeloZoom is an exome-based test. If you need Telomere Length Testing, please contact Molecular Diagnostics Lab at molecularpathresults@jhmi.edu and 410-955-1438. Telomere Length Testing Requisition Form

DDL Test Requisition Forms

CPT Code List

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)		$2,915814796-8 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)		$2,915814796-8 weeksExome + del/dup analysis
LowBoneDensityZoom51

*Fragile bones
*Osteopenia

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
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)		$2,915814796-8 weeksExome + del/dup analysis
PulmZoom106*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
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)		$2,915814796-8 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)		$2,915814796-8 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
ZoomOut  N/A - Analysis-Only$2680.50814173-4 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
Clinical Exome Reanalysis  N/A - Analysis Only$2680.50814173-4 weeksExome + 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		$355812712-3 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)		$400814033 weeksSanger
Prenatal Targeted Variant +
Maternal Cell Contamination Study		Please 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)
Cord Blood
Maternal Sample required		$1,350814793 weeksSanger
Maternal Cell Contamination Study  

Direct Villi (10mg, cleaned)
Cultured Villi (2 T25 flasks)
Cultured Amniocytes (2 T25 flasks)
Extracted DNA (extracted from a CLIA-certified lab)
Cord Blood
Maternal Sample required

$600812651 weekFragment Analysis