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  • GO BACK
    Test By Category
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METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
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Search Results

Test Descriptions Found: 63
Searched: all tests

# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Panel(s) Available Method Price
Early Infantile Epileptic Encephalopathy Panel
Sequencing with CNV
PGxome
$1240
Ectodermal Dysplasia Panel
Sequencing with CNV
PGxome
$890
Ehlers-Danlos Syndromes (EDS) Panel
Sequencing with CNV
PGxome
$1340
Ellis-van Creveld Syndrome (EVC) Panel
Sequencing with CNV
PGxome
$890
Epidermolysis Bullosa (EBS) and Related Disorders Panel
Sequencing with CNV
PGxome
$890
Epilepsy and Seizure Plus Panel
Sequencing with CNV
PG-Select
$790
Episodic Pain Syndrome Panel
Sequencing with CNV
PGxome
$890
Single Gene Test(s) Available Method Price
Early Infantile Epilepsies and Autism via the SCN2A Gene
Sequencing with CNV
PG-Select
$640
Early Infantile Epileptic Encephalopathy 24 via the HCN1 Gene
Sequencing with CNV
PG-Select
$640
Early Infantile Epileptic Encephalopathy and Benign Familial Neonatal Seizures via the KCNQ2 Gene
Sequencing with CNV
PG-Select
$640
Early Infantile Epileptic Encephalopathy and Intellectual Disability via the SPTAN1 Gene
Sequencing with CNV
PG-Select
$640
Early Infantile Epileptic Encephalopathy and Rett-like Syndrome via the CDKL5 Gene
Sequencing with CNV
PG-Select
$640
Early Infantile Epileptic Encephalopathy or Kohlschütter-Tönz Syndrome via the SLC13A5 Gene
Sequencing with CNV
PG-Select
$640
Early Infantile Epileptic Encephalopathy via the KCNA2 Gene
Sequencing with CNV
PG-Select
$640
Early Infantile Epileptic Encephalopathy via the SCN8A Gene
Sequencing with CNV
PG-Select
$640
Early Infantile Epileptic Encephalopathy via the SLC25A22 Gene
Sequencing with CNV
PG-Select
$640
Early Infantile Epileptic Encephalopathy via the SZT2 Gene
Sequencing with CNV
PG-Select
$640
Early Infantile Epileptic Encephalopathy-12 via the PLCB1 Gene
Sequencing with CNV
PG-Select
$640
Early Infantile Epileptic Encephalopathy-15 and Intellectual Disability via the ST3GAL3 Gene
Sequencing with CNV
PG-Select
$640
Early-Onset Ataxia with Oculomotor Apraxia Type 1 via the APTX Gene
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Early-Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD) via the MEGF10 Gene
Sanger Sequencing
$1210
Sequencing with CNV
PGxome
$890
Ectodermal Dysplasia via the EDA Gene
Sequencing with CNV
PG-Select
$640
Ectodermal Dysplasia via the EDAR Gene
Sequencing with CNV
PG-Select
$640
Ectodermal Dysplasia via the EDARADD Gene
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Ectodermal Dysplasia via the KRT85 Gene
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Ectodermal Dysplasia via the NECTIN1 Gene
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Ectodermal Dysplasia via the WNT10A Gene
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Ectodermal Dysplasia/Short Stature Syndrome and Deafness, Autosomal Dominant 28 (DFNA28) via the GRHL2 Gene
Sequencing with CNV
PGxome
$890
Ectodermal Dysplasia/Skin Fragility Syndrome via the PKP1 Gene
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Ectodermal Dysplasia/Tooth Agenesis via the MSX1 Gene
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Ehlers-Danlos syndrome Musculocontractural Type 1 via the CHST14 Gene
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Ehlers-Danlos Syndrome with Progressive Kyphosis, Myopathy, and Hearing Loss (EDSKMH) via the FKBP14 Gene
Sequencing with CNV
PG-Select
$640
Ehlers-Danlos Syndrome, Classic Type via the COL5A1 Gene
Sequencing with CNV
PG-Select
$640
Ehlers-Danlos Syndrome, Classic Type via the COL5A2 Gene
Sequencing with CNV
PG-Select
$640
Ehlers-Danlos Syndrome, Kyphoscoliotic Form via the PLOD1 Gene
Sequencing with CNV
PG-Select
$640
Ehlers-Danlos Syndrome, Type IV via the COL3A1 Gene
Sequencing with CNV
PG-Select
$640
Ellis-van Creveld Syndrome via the EVC Gene
Sanger Sequencing
$1190
Sequencing with CNV
PGxome
$890
Ellis-van Creveld Syndrome via the EVC2 Gene
Sanger Sequencing
$1490
Sequencing with CNV
PGxome
$890
Emery-Dreifuss Muscular Dystrophy (EDMD1) via the EMD Gene
Sequencing with CNV
PG-Select
$640
Epidermolysis Bullosa Simplex (EBS) via the KRT14 Gene
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Epidermolysis Bullosa Simplex (EBS) via the KRT5 Gene
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Epidermolysis Bullosa with Pyloric Atresia and Plectinopathy via the PLEC Gene
Sanger Sequencing
$2420
Sequencing with CNV
PGxome
$890
Epidermolysis Bullosa with Pyloric Atresia via the ITGA6 Gene
Sanger Sequencing
$1250
Sequencing with CNV
PGxome
$890
Epidermolysis Bullosa with Pyloric Atresia via the ITGB4 Gene
Sanger Sequencing
$1690
Sequencing with CNV
PGxome
$890
Epidermolytic Hyperkeratosis via the KRT1 Gene
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Epilepsy and Intellectual Disability in Females via the PCDH19 Gene
Sequencing with CNV
PG-Select
$640
Epilepsy, X-linked, with Variable Learning Disabilities and Behavior Disorders via the SYN1 Gene
Sequencing with CNV
PG-Select
$640
Epilepsy: ALG13-Related Early Infantile Epileptic Encephalopathy via the ALG13 Gene
Sequencing with CNV
PG-Select
$640
Epilepsy: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, Type 4 via the CHRNA2 Gene
Sequencing with CNV
PG-Select
$640
Epilepsy: Benign Familial Neonatal Seizures Type 2 via the KCNQ3 Gene
Sequencing with CNV
PG-Select
$640
Epilepsy: Early Infantile Epileptic Encephalopathy via the ARHGEF9 Gene
Sequencing with CNV
PG-Select
$640
Epilepsy: Focal Epilepsy and Focal Cortical Dysplasia via the NPRL2 Gene
Sequencing with CNV
PG-Select
$640
Epilepsy: Generalized Epilepsy with Febrile Seizures Plus, Type 9 via the STX1B Gene
Sequencing with CNV
PG-Select
$640
Epilepsy: GNAO1-Related Early Infantile Epileptic Encephalopathy and Neurodevelopmental Disorder with Involuntary Movement via the GNAO1 Gene
Sequencing with CNV
PG-Select
$640
Epilepsy: SCN3A-Related Epilepsy via the SCN3A Gene
Sequencing with CNV
PG-Select
$640
Epilepsy: Unverricht-Lundborg Disease via the CSTB Gene
Sequencing with CNV
PG-Select
$640
Epileptic Encephalopathy and Intellectual Disability via the CHD2 Gene
Sequencing with CNV
PG-Select
$640
Epilespy, Autosomal Dominant Lateral Temporal, via the LGI1 Gene
Sequencing with CNV
PG-Select
$640
Epimerase Deficiency Galactosemia via the GALE Gene
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Episodic Ataxia Type 1 or Hypomagnesemia via the KCNA1 Gene
Sequencing with CNV
PG-Select
$640
Erythropoietic Protoporphyria via the FECH Gene
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Ethylmalonic Encephalopathy via the ETHE1 Gene
Sequencing with CNV
PG-Select
$640
Exome-Wide CNV Analysis
Other
$650
  • GO BACK
    Test By Category
  • View All Tests
  • View All Panels
ORDER
Test Kits
START
Custom Panel

METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
  • Other
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