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Clinical DNA Testing

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PreventionGenetics offers a steadily expanding menu of Clinical DNA tests. Our laboratory is CAP/CLIA certified. Please use the Requisition Form when ordering tests. Click on the links in the following list for test descriptions and test prices. CPT Codes for each test are listed at the bottom of the Test Descriptions.

Tests Offered By Disease

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 Other Tests


- A -

Test No.
Disease / Syndrome
OMIM
 
Autosomal Recessive Polycystic Kidney Disease
 
     PKHD1  Sequencing
263200

- B -

Test No.
Disease / Syndrome
OMIM
 
Bernard-Soulier Syndrome
 
     Bernard-Soulier Sequential(GP1BA, GP1BB, GP9)
231200
     GP1BA  Sequencing
231200
     GP1BB  Sequencing
231200
     GP9  Sequencing
231200

- C -

Test No.
Disease / Syndrome
OMIM
 
Cabezas X-Linked Mental Retardation Syndrome
300354
     CUL4B  Sequencing
 
 
 
 
Cardio-Facio-Cutaneous (CFC) Syndrome
115150
     BRAF, MEK1, MEK2, KRAS  Sequencing
 
     KRAS  Sequencing
 
 
     Link to CFC Syndrome Support Group
 
 
 
 
Cardiomyopathy
 
     Dilated Cardiomyopathy, Dominant (CMD1A): LMNA Sequencing
115200
 
 
 
Central Core Disease
 
     RYR1  Sequencing
145600
 
 
 
Cerebral Cavernous Malformations
116860
     Sequential  CCM  Testing
 
     KRIT1/CCM1 Sequencing
 
     CCM2 Sequencing
 
     PDCD10/CCM3 Sequencing
 
     CCM2 Deletion Testing
 
     KRIT1/CCM1 Common Hispanic Mutation
 
 
     Link to Support Group for CCM
 
 
 
 
Charcot-Marie-Tooth Disease Type 2B1
 
     LMNA Sequencing
605588
 
 
 
CHARGE Syndrome
     CHD7 Sequencing
214800
 
     Link to CHARGE Syndrome Support Group
 
 
 
 
Congenital Disorders of Glycosylation
     PMM2 Sequencing
212065
     MPI Sequencing
602579
     ALG6 Sequencing
603147
 
 
 
Congenital Fiber Type Disproportion
     SEPN1 Sequencing
602771
     TPM3 Sequencing
191030
 
 
 
 
 
Congenital Muscular Dystrophy
     MDC1A:   LAMA2 Exon Sequencing
607855
     MDC1C:   FKRP Exon Sequencing
606612
     MDC1D:   LARGE Exon Sequencing
236670/608840
     FCMD:  FKTN Exon Sequencing
253800
     FCMD:  Japanese founder mutation PCR
253800
     MEB:  POMGnT1 Exon Sequencing
253280/236670
     MEB:  POMT2 Exon Sequencing
236670/253280
     Walker-Warburg Syndrome:  Dystroglycanopathy Sequential Panel (FKRP, FKTN, POMT1, POMT2, POMGnT1, LARGE)
236670
 
 
 
 
 
Costello Syndrome
218040
     HRAS Sequencing
 
 
 
 
Cystic Fibrosis
 
     CFTR Sequencing + 5T/TG Tract Analysis
219700

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- D -

Test No.
Disease / Syndrome
OMIM
 
Dunnigan-Type Familial Partial Lipodystrophy, Dominant (FPLD2)
 
     LMNA Sequencing
151660
 
 
 
Dystonia
 
     DRD2  Sequencing
128100
     GCH1  Sequencing
128230
     PNKD  Sequencing
118800
     SGCE  Sequencing
159900
     TOR1A  Sequencing
 
 
 
 
Dystroglycanopathies
 
     Dystroglycanopathy Sequential Panel (FKRP, FKTN, POMT1, POMT2      POMGNT1, LARGE)
236670
     FKRP  Sequencing
607155
     FKTN/FCMD  Sequencing
236670
     FKTN Japanese Founder Mutation
236670
     LARGE Sequencing
236670 
     POMT1  Sequencing
236670/253280
     POMT2  Sequencing
236670/253280
     POMGnT1  Sequencing
236670/253280 
 
 


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- E -

Test No.
Disease / Syndrome
OMIM
 
Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant (EDMD2)
 
     LMNA Sequencing
181350
 
 
 
Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive (EDMD3)
 
     LMNA Sequencing
604929

- F -

Test No.
Disease / Syndrome
OMIM
 
Fanconi-Bickel Syndrome (GSD, Type XI)
 
     SLC2A2  Sequencing
227810
 
 
 
Fatty Acid Oxidation Disorders
 
     ACADM  Sequencing
201450 
     ACADS  Sequencing
201470
     ACADVL  Sequencing
201475 
 
 
 
Fukuyama Congenital Muscular Dystrophy
 
     FKTN/FCMD Gene Sequencing
236670
     FKTN Japanese Founder Mutation
236670

- G -

Test No.
Disease / Syndrome
OMIM
 
Galactosemia
 
     GALT  Sequencing
230400
 
 
 
 
Glutaric Acidemia I
 
     GCDH  Sequencing
231670
 
 
 
Glycogen Storage Disease
 
     GYS2  Sequencing (Type 0)
240600
     G6PC  Sequencing (Type Ia)
232200
     SLC37A4  Sequencing (Type Ib)
232220
     GAA  Sequencing (Type II)
232300
     AGL  Sequencing (Type III)
232400
     GBE1  Sequencing (Type IV)
232500
     PYGM  Sequencing (Type V)
232600
     PYGL  Sequencing (Type VI)
232700
     PFKM  Sequencing (Type VII)
232800
     PHKA1  Sequencing (Type IX)
300559
     PHKA2  Sequencing (Type IX)
306000
     PHKG2  Sequencing (Type IX)
 
     SLC2A2  Sequencing (Type XI)
227810
 
     Link to Glycogen Storage Disease Support Group
 
 
 
 
 
Greig Cephalopolysyndactyly Syndrome
 
     GLI3  Sequencing
146510

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- H -

Test No.
Disease / Syndrome
OMIM
 
3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency
 
     HMGCL  Sequencing
246450

- I -

Test No.
Disease / Syndrome
OMIM
 
Isovaleric Acidemia
 
     IVD  Sequencing
243500
 
     Link to Organic Acidemia Association
 

- J -

Test No.
Disease / Syndrome
OMIM
 
Jarcho-Levin Syndrome
 
     MESP2  Sequencing
277300/608681
 
 
 
Joubert Syndrome
 
     Joubert Syndrome Sequential Test
213300
     AHI1  Sequencing
213300
     CEP290  Sequencing
213300
     TMEM67/MKS3  Sequencing
213300/249000
     NPHP1  Deletion Testing
256100
     RPGRIP1L  Sequencing
 
 
     Clinical Features Checklist
 
 
     Link to Joubert Syndrome Support Group
 

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- L -

Test No.
Disease / Syndrome
OMIM
 
Laminopathies
 
     Charcot-Marie-Tooth disease type 2B1: LMNA Sequencing
605588
     Dilated Cardiomyopathy, Dominant (CMD1A): LMNA Sequencing
115200
     Dunnigan-type Familial Partial Lipodystrophy, Dominant(FPLD2): LMNA      Sequencing
151660
     Emery-Dreifuss Muscular Dystrophy, Dominant (EDMD2): LMNA      Sequencing
181350
     Emery-Dreifuss Muscular Dystrophy, Recessive (EDMD3: LMNA      Sequencing
604929
     Hutchinson-Gilford Progeria Syndrome via LMNA  Sequencing
176670
 
     Link to Progeria Support Group
 
     LGMD1B: LMNA  Sequencing
159001
     Mandibuloacral Dysplasia via LMNA  Sequencing
 
 
 
 
 
LEOPARD Syndrome
 
     PTPN11  Sequencing
151100
 
     Link to Noonan Syndrome Support Group
 
 
 
 
 
Limb Girdle Muscular Dystrophy
 
     LGMD1B:  LMNA  Sequencing
176670
     LGMD2A:  CAPN3  Sequencing
253600
     LGMD2B:  DYSF  Sequencing
253601
     LGMD2D:  SGCA  Sequencing
608099
     LGMD2E:  SGCB  Sequencing
604286
     LGMD2I:   FKRP  Sequencing
607155
     LGMD2K:  POMT1  Sequencing
236670/253280
     LGMD2M:  FKTN  Sequencing
236670/253800
     LGMD-MR:  POMT2  Sequencing
236670/253280
 
 
 
 
 
 
Lipodystrophy
 
     Dunnigan-type Familial Partial Lipodystrophy, Dominant(FPLD2): LMNA      Sequencing
151660
 
 
 
Lymphedema
 
     FOXC2  Sequencing
153400
     FLT4  Sequencing
153100
 
     Link to Lymphatic Research
 

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- M -

Test No.
Disease / Syndrome
OMIM
 
Malignant Hyperthermia / Central Core Disease
 
     RYR1  Sequencing
145600
 
     Link to Malignant Hyperthermia Association of the U.S.
 
 
 
 
Mandibuloacral Dysplasia
 
     LMNA  Sequencing
176670
     ZMPSTE24  Sequencing
275210
 
 
 
Meckel Gruber Syndrome
 
     MKS1  Sequencing
249000
     TMEM67/MKS3  Sequencing
213300/249000
     CEP290  Sequencing
213300
     RPGRIP1L  Sequencing
 
 
 
 
Mental Retardation
 
     CUL4B  Sequencing
300354
 
 
 
Merosin-Deficient Congenital Muscular Dystrophy
 
     LAMA2  Sequencing
607855
 
 
 
3-Methylcrotonyl-CoA Carboxylase Deficiency
 
     MCCC1 and MCCC2 Gene Sequencing
210200/210210
 
 
 
Methylmalonic Acidemia
 
     Sequential Gene Sequencing
251100
     MUT  Sequencing
251100
     MMAA  Sequencing
251100
     MMAB  Sequencing
251100
 
     Link to Organic Acidemia Association
 
 
 
 
Multiminicore, Rigid Spine Muscular Dystrophy
 
     SEPN1 Sequencing
602771
     RYR1  Sequencing
145600
 
 
 
Multiple Carboxylase Deficiency
 
     BTD  Sequencing
253260
     HLCS  Sequencing
253270
 
 
 
Muscle-Eye-Brain Disease
 
     POMGnT1  Sequencing
253280/236670
     POMT2  Sequencing
236670/253280
 
 
 
 
 
Myopathic Conditions
 
     CAPN3  Sequencing
253600
     DYSF  Sequencing
253601
     Dystroglycanopathy Sequential Panel (FKRP, FKTN, POMT1, POMT2      POMGnT1, LARGE)
236670
     FKRP  Sequencing
607155
     FKTN/FCMD  Sequencing
236670
     FKTN Japanese Founder Mutation
236670
     LAMA2  Sequencing
607855
     LARGE  Sequencing
236670/608840
     LMNA  Sequencing
176670
     NEB Sequencing
256030
     NEB Exon 55 Deletion
256030
     POMT1  Sequencing
236670/609308
     POMT2  Sequencing
236670/253280
     POMGnT1  Sequencing
253280/236670
     SEPN1 Sequencing
602771
     SGCA  Sequencing
608099
     SGCB  Sequencing
604286
     TPM3 Sequencing
191030
 
 

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- N -

Test No.
Disease / Syndrome
OMIM
 
Neonatal Testing
 
     CFTR Sequencing + 5T/TG Tract Analysis
219700
     ACADM  Sequencing
201450
     ACADS  Sequencing
201470
     ACADVL  Sequencing
201475
     GALT  Sequencing
230400
     IVD  Sequencing
243500
     HMGCL  Sequencing
246450
     MCCC1 and MCCC2 Gene Sequencing
210200/210210
     MUT  Sequencing
251000
     PAH Testing
261600 
     PCCA Testing
606054
     PCCB Testing
606054
 
 
 
Nemaline Myopathy
 
     NEB Sequencing
256030
     NEB Exon 55 Deletion
256030
     SEPN1 Sequencing
602771
     TPM3 Sequencing
191030
 
 
 
 
 
Nephronopthisis
 
     NPHP1  Deletion Test
256100
 
 
 
Noonan Syndrome / LEOPARD Syndrome
 
     Noonan Sequential (PTPN11, SOS1, RAF1, KRAS)
163950
     Noonan PTPN11 Sequencing
163950
     RAF1 Sequencing
163950
     SOS1 Sequencing
163950
     LEOPARD PTPN11 Sequencing
151100/163950
     KRAS  Sequencing
 

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- O -

Test No.
Disease / Syndrome
OMIM
 
Organic Acidemias
 
     HMGCL  Sequencing
246450
     IVD  Sequencing
243500
     MCCC1 and MCCC2 Gene Sequencing
210200/210210
     MUT  Sequencing
251100
     PCCA Testing
606054
     PCCB Testing
606054
 
     Link to Organic Acidemia Association
 

- P -

Test No.
Disease / Syndrome
OMIM
 
Pallister-Hall Syndrome
 
     GLI3  Sequencing
146510
 
 
 
Phenylalanine Hydroxylase Deficiency (PKU)
 
     PAH Testing
261600
 
 
 
Progeria, Hutchinson-Gilford and Progeria Syndromes
 
     LMNA  Sequencing
176670
     ZMPSTE24  Sequencing
275210
 
 
 
Propionic Acidemia
 
     Sequential Gene Sequencing
606054
     PCCA Testing
606054
     PCCB Testing
606054
 
     Link to Propionic Acidemia Foundation
 
 
     Link to Propionic Acidemia Research Network
 
 
     Link to Organic Acidemia Association
 

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- R -

Test No.
Disease / Syndrome
OMIM
 
Restrictive Dermopathy, Mandibuloacral Dysplasia
 
     ZMPSTE24  Sequencing
275210

- S -

Test No.
Disease / Syndrome
OMIM
 
Sarcoglycanopathies
 
     LGMD2D:  SGCA  Sequencing
608099
     LGMD2E:  SGCB  Sequencing
604286
     Dystonia: SGCE  Sequencing
159900