Test Descriptions by Disease

PreventionGenetics offers a steadily expanding menu of Clinical DNA tests. Our laboratory is fully CLIA-accredited through CAP. 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.

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3 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

- 3 -

Gene Disease / Syndrome OMIM
  3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency  
240      HMGCL  Sequencing 246450
  3-Methylcrotonyl-CoA Carboxylase Deficiency  
320 - 322      MCCC1 and MCCC2 Gene Sequencing 210200/210210
  3-Methylglutaconic Aciduria Type I  
323      AUH Gene Sequencing 250950
  3-M Syndrome  
624      CUL7  Sequencing 273750
  46,XY Disorder of Sex Development (DSD)  
735      HSD17B3  Sequencing 612965
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- A -

Gene Disease / Syndrome OMIM
  Aarskog-Scott Syndrome  
837      FGD1 Sequencing 305400
  Achondrogenesis  
788       COL2A1  Sequencing 200610
782       SLC26A2  Sequencing 606718
  Achondroplasia  
425      FGFR3 Sequencing 100800
426      FGFR3 Sequencing (Achondroplasia/Hypochondroplasia) 100800
  Achromatopsia  
695      Sequencing Panel:  CNGB3, CNGA3, GNAT2, PDE6C  Sequencing 262300
691      CNGA3  Sequencing 262300
692      CNGB3  Sequencing 262300
693      GNAT2  Sequencing 262300
694      PDE6C  Sequencing 600827
  Acro-Renal-Ocular Syndrome and Duane-Radial Ray Syndrome  
832      SALL4 Sequencing 607323
  Adenylosuccinase  
564      ADSL  Sequencing 103050
  Alagille Syndrome  
427      JAG1  Sequencing 118450
  Alstrom Syndrome  
265      ALMS1  Sequencing 203800
  Amish Nemaline Myopathy  
332      TNNT1  Sequencing 191041
  Amyotrophic Lateral Sclerosis  
155      ALS  Sequencing Panel (SOD1, FUS, TARDBP, ANG) 105400
108      ALS2  Sequencing (Juvenile Amyotrophic Lateral Sclerosis, Autosomal Recessive) 105400
108      ALS2  Sequencing (Infantile-Onset Ascending Hereditary Spastic Paralysis) 105400
108      ALS2  Sequencing (Juvenile Primary Lateral sclerosis, Autosomal Recessive) 105400
154      ANG  Sequencing 105400
152      FUS  Sequencing 137070
156      OPTN  Sequencing 105400
109      SETX  Sequencing 608465
106      SOD1  Sequencing 147450
155      SOD1, FUS, TARDBP, ANG  Gene Sequencing Panel 105400
153      TARDBP  Sequencing 605078
107      VAPB  Sequencing 608627
  Androgen Insensitivity Syndrome (AIS)  
736      AR Sequential Testing 313700
  Array Comparative Genomic Hybridization  
600      High Density Gene-Centric Deletion and Amplificaiton Array CGH  
  Arrhythmogenic Right Ventricular Cardiomyopathy  
207      PKP2, DSP, DSG2, DSC2 Sequential Testing 107970
206      DSC2 Sequencing 107970
205      DSG2 Sequencing 107970
203      DSP Sequencing 107970
204      PKP2 Sequencing 107970
209      TMEM43 Sequencing 107970
  Arthrogryposis, Distal  
337      MYH3 Sequencing 193700
331      TPM2 Sequencing 108120
  Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome  
591      VIPAR Sequencing 208085
248      VPS33B Sequencing 608552
  Atelosteogenesis Type 2 (AO2)  
782      SLC26A2 Sequencing 606718
  Autosomal Dominant Severe Congenital Neutropenia and Cyclic Neutropenia  
444      ELANE  Sequencing 202700
  Autosomal Recessive Osteopetrosis  
854      TNFRSF11A  Sequencing 603499
  Autosomal Recessive Polycystic Kidney Disease  
101 - 103      PKHD1  Sequencing 263200
  Autosomal Recessive Cerebellar Ataxia  
109      SETX  Sequencing 608465
246      SYNE1  Sequencing 608441
  Autosomal Recessive Severe Congenital Neutropenia (Kostmann Disease)  
446      HAX1  Sequencing 202700
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- B -

Gene Disease / Syndrome OMIM
  Bardet-Biedl Syndrome  
251      Bardet-Biedl Syndrome Gene Sequencing Panel 209900
254      ARL6/BBS3 Sequencing 209900
252      BBS1 Sequencing 209900
253      BBS2 Sequencing 209900
255      BBS4 Sequencing 209900
256      BBS5 Sequencing 209900
258      BBS7 Sequencing 209900
261      BBS9 Sequencing 209900
262      BBS10 Sequencing 209900
264      BBS12 Sequencing 209900
257      MKKS/BBS6 Sequencing 209900
659      SDCCAG8  Sequencing 613615
263      TRIM32/BBS11 Sequencing 209900
259      TTC8/BBS8 Sequencing 209900
  Barth Syndrome  
149      TAZ Sequencing 302060
  Beals Syndrome  
395      FBN2 Sequencing  
  Bernard-Soulier Syndrome  
432      Bernard-Soulier Sequential(GP1BA, GP1BB, GP9) 231200
433      GP1BA  Sequencing 231200
434      GP1BB  Sequencing 231200
435      GP9  Sequencing 231200
  Bethlem Myopathy  
359      COL6A1-COL6A2-COL6A3 Sequencing 158810
  Bilateral Frontoparietal Polymicrogyria (BFPP)  
299      GPR56 Sequencing 606854
  Bloom's Syndrome  
717      BLM Sequencing 210900
  Brachydactyly, Type B1  
136      ROR2 Sequencing 268310
  Brown-Vialetto-Van Laere Syndrome and Fazio-Londe Disease  
417      C20orf54  Sequencing 613350
  Brugada Syndrome 1  
492      SCN5A Sequencing 600163
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- C -

Gene Disease / Syndrome OMIM
  Cabezas X-Linked Mental Retardation Syndrome 300354
561      CUL4B  Sequencing  
  Camurati-Engelmann Disease (CED)  
787      TGFB1  Sequencing 190180
  Cardiac Channelopathy 601144
492      SCN5A  Sequencing  
  Cardio-Facio-Cutaneous (CFC) Syndrome 115150
110 - 113      BRAF, MEK1, MEK2, KRAS  Sequencing  
378      KRAS  Sequencing  
       Link to CFC Syndrome Support Group  
  Cardiomyopathy  
172       MYH7 Sequencing 160760
347      Dilated Cardiomyopathy, Dominant (CMD1A): LMNA Sequencing 115200
  Cartilage-Hair Hypoplasia (CHH)  
784       RMRP Sequencing 250250
  Catecholaminergic Polymorphic Ventricular Tachycardia  
810-812      RYR2 Sequencing 604772
  Caveolinopathy Testing  
467      CAV3 Sequencing 607801
  Central Core Disease  
570 - 572      RYR1  Sequencing 145600
  Cerebral Cavernous Malformations 116860
120      Sequential  CCM  Testing  
122      CCM2 Sequencing  
123      PDCD10/CCM3 Sequencing  
124      CCM2 Deletion Testing  
125      KRIT1/CCM1 Common Hispanic Mutation  
       Link to Support Group for CCM  
  Charcot-Marie-Tooth Disease  
383      GARS Sequencing (Type 2D) 601472
387      HSPB1 Sequencing, Axonal, Type F 606595
389      HSPB8  Sequencing, Axonal, Type L 608673
347      LMNA Sequencing (Type 2B1) 605588
  CHARGE Syndrome
130      CHD7 Sequencing 214800
       Link to CHARGE Syndrome Support Group  
  Chediak-Higashi Syndrome (CHS)
769      LYST Sequencing 214500
  Childhood Onset Muscular Dystrophy with Myofibrillar Myopathy
596      BAG3 Sequencing 603883
  Childhood Recurrent Acute Myoglobinuria, Autosomal Recessive
369      LPIN1 Sequencing 268200
319      LPIN1 Deletion Testing 268200
  Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1)  
813      ARSE Sequencing 302950
  Christianson Type X-Linked Mental Retardation  
562      SLC9A6 Sequencing 300231
  Ciliopathy
279      INPP5E Sequencing 213300
  Citrullinemia
553      ASS1 Sequencing 311250
  Classic Lissencephaly
503      DCX Sequencing 300121
507      PAFAH1B1 Sequencing 607432
  Cleidocranial Dysplasia (CCD)
786      RUNX2 Sequencing 119600
  Cohen Syndrome
134      VPS13B (COH1) Sequencing 216550
  Combined Pituitary Hormone Deficiency-4 (CPHD-4)
629      LHX4 Sequencing 262700
  Cone-Rod Dystrophy
665      CRX Sequencing 120970
663      PRPH2  Sequencing 608161
  Congenital Contractural Arachnodactyly  
395      FBN2 Sequencing  
  Congenital Disorders of Glycosylation
540      Panel 1:   PMM2, MPI, ALG6 Sequential Sequencing  
542       Panel 2:   ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2 Sequential Sequencing  
536      ALG2 Sequencing 607906
539      ALG3 Sequencing 601110
533      ALG6 Sequencing 603147
537      ALG8 Sequencing 608104
534      ALG12 Sequencing 607143
535      DPM1 Sequencing 603503
543      DPM3 Sequencing 605951
538      MPDU1 Sequencing 604041
532      MPI Sequencing 602579
531      PMM2 Sequencing 212065
516      SLC35C1 Sequencing 116920
  Congenital Fiber Type Disproportion
329      Sequencing Panel 102610
358      ACTA1 Sequencing 102610
330      SEPN1 Sequencing 602771
357      TPM3 Sequencing 191030
  Congenital Generalized Lipodystrophy
463     Sequencing Panel:  AGPAT2 and BSCL2 (Types 1 and 2) 608954
462      AGPAT2 Sequencing (Type 1) 608954
461      BSCL2 Sequencing (Type 2) 600794
  Congenital Muscular Dystrophy
359      COL6A1, COL6A2, COL6A3 254090/158810
340       Dystroglycanopathy Sequential Panel (FKRP, FKTN, POMT1, POMT2, POMGnT1, LARGE) 236670
343      FKTN (FCMD)  Sequencing 236670
354      FKTN Japanese Founder Mutation 236670
244      ITGA7 Sequencing 600536
345      LAMA2 Sequencing 607855
245      LAMA2:  Mexican Exon 55 Mutation 607855
346      LARGE Sequencing 236670/608840
348      POMT1  Sequencing 236670/253280
349      POMT2  Sequencing 236670/253280
351      POMGnT1  Sequencing 236670/253280 
246      SYNE1 Sequencing 608441
  Congenital Myasthenic Syndrome  
412      CHRNE, CHRNA1, CHRNB1, CHRND, MUSK, COLQ, CHAT, RAPSN Sequencing Panel 608931
407      CHAT Sequencing 118490
401      CHRNA1 Sequencing 100690
402      CHRNB1 Sequencing 100690
403      CHRND Sequencing 100720
404      CHRNE Sequencing 100725
409      COLQ Sequencing 100725
465      DOK7 Sequencing 110600
406      MUSK Sequencing 110600
466      RAPSN Sequencing 608931
  Congenital Stationary Night Blindness  
685      PDE6B Sequencing 180072
  Conradi-Hunermann Syndrome / Chondrodysplasia Punctata, X-Linked Dominant  
781      EBP Sequencing 300205
  Costello Syndrome  
140 - 142      HRAS Sequencing 218040
  Cranioectodermal Dysplasia  
623      IFT122 Sequencing 218330
292      WDR35 Sequencing (CED2) 218330
  Creatine Deficiency Syndrome  
242      GAMT Sequencing 612736
241      GATM Sequencing 612718
  Cystic Fibrosis  
150      CFTR Sequencing + 5T/TG Tract Analysis 219700
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- D -

Gene Disease / Syndrome OMIM
  Danon Disease  
418      LAMP2 Sequencing 300257
  Deafness, Autosomal Dominant 13  
829      COL11A2  Gene Sequencing 184840
  Dentinogenesis Imperfecta (DGI) and Dentin Dysplasia (DD)  
771      DSPP Sequencing 166240
  Diastrophic Dysplasia (DTD)  
782      SLC26A2 Sequencing 606718
  Dilated Cardiomyopathy  
147      ABCC9 Sequencing 115200
172      MYH7 Sequencing 192600
148      PLN Sequencing 115200
146      SGCD Sequencing 115200
468      TCAP Sequencing 115200
  Disorder of Sex Development (DSD) 46,XY  
735      HSD17B3  Sequencing 612965
  Distal Arthrogryposis  
335      MYH3, TPM2, TNNI2, TNNT3 Sequential Testing 193700
337      MYH3 Sequencing 193700
333      TNNI2 Sequencing 108120
334      TNNT3 Sequencing 108120
331      TPM2 Sequencing 108120
  Distal Hereditary Motor Neuronopathy  
461      BSCL2 Sequencing (Type V) 600794
382      DCTN1 Sequencing (Type VIIB) 607641
383      GARS Sequencing (Type V) 608634
387      HSPB1 Sequencing, Type IIB 606595
389      HSPB8  Sequencing, Type IIA 608673
  Distal Miyoshi Myopathy  
469      ANO5 Sequencing 608622
  Distal Myopathy  
336      MATR3 Sequencing 164015
172      MYH7 Sequencing 160500
  Duane-Radial Ray Syndrome and Acro-Renal-Ocular Syndrome  
832      SALL4 Sequencing 607323
  Dunnigan-Type Familial Partial Lipodystrophy, Dominant (FPLD2)  
347      LMNA Sequencing 151660
  Dynactin-Related Disorders  
382      DCTN1 Sequencing 607641
  Dystonia  
161      GCH1  Sequencing 128230
162 - 164      PNKD  Sequencing 118800
165      SGCE  Sequencing 159900
166 - 168      TOR1A  Sequencing  
  Dystroglycanopathies  
340      Dystroglycanopathy Sequential Panel (DAG1, FKRP, FKTN, POMT1, POMT2, POMGNT1, LARGE) 236670
384      DAG1  Sequencing 128239
543      DPM3  Sequencing 605951
344      FKRP  Sequencing 607155
343      FKTN/FCMD  Sequencing 236670
354      FKTN Japanese Founder Mutation 236670
346      LARGE Sequencing 236670 
348      POMT1  Sequencing 236670/253280
349      POMT2  Sequencing 236670/253280
351      POMGnT1  Sequencing 236670/253280 
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- E -

Gene Disease / Syndrome OMIM
 
 Ehlers-Danlos Syndrome (EDS)  
844      COL3A1 Gene Sequencing 130050
840-842      COL5A1, COL5A2 Sequencing 130000
 
 Ellis-van Creveld Syndrome (EVC)  
783      EVC, EVC2 Sequencing 225500
 
 Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant  
592      EMD Sequencing 181350
347      LMNA Sequencing 181350
  Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive  
347      LMNA Sequencing 604929
246      SYNE1 Sequencing 608441
  Endocardial Fibroelastosis  
149      TAZ Sequencing 302060
  Enhanced S Cone Dystrophy  
668      NR2E3 Sequencing 268100
  Episodic Apnea  
412      CHAT Sequencing 118490
  Epstein/Fechtner/Sebastian Syndromes, DNFA17  
442      MYH9 Sequencing 153650
  Escobar Syndrome  
405      CHRNG Sequencing 253290
  Eye Diseases  
696      ABCA4  Sequencing 248200
686      CNGA1  Sequencing 123825
687      CNGB1  Sequencing 268000
681      CRB1  Sequencing 204100
665      CRX  Sequencing 204000
664      IMPDH1 Sequencing 268000
641      Knobloch Syndrome, Type I via COL18A1 Sequencing 267750
668      NR2E3 Sequencing 268000
684      PDE6A Sequencing 180071
685      PDE6B Sequencing 180072
694      PDE6C Sequencing 180072
669      PRPF3 Sequencing 268000
667      PRPF8 Sequencing 268000
666      PRPF31 Sequencing 268000
663      PRPH2 Sequencing 268000
661      RHO Sequencing 268000
662      RP1 Sequencing 268000
682      RPE65  Sequencing 204100
683      TULP1  Sequencing 602280
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- F -

Gene Disease / Syndrome OMIM
  Farber Lipogranulomatosis  
481      ASAH1  Sequencing 228000
  Fabry Disease  
471      GLA  Sequencing 300644
  Familial Adenomatous Polyposis  
710      APC  Sequencing 175100
  Familial Expansile Osteolysis  
854      TNFRSF11A  Sequencing 603499
  Familial Hemophagocytic Lymphohistiocytosis  
215      FHL Panel: PRF1, UNC13D, STX11, STXBP2, RAB27A  Sequencing 267700
216      PRF1  Sequencing 267700
213      RAB27A  Sequencing 267700
217      STX11  Sequencing 267700
214      STXBP2  Sequencing 267700
218-219      UNC13D  Sequencing 267700
  Familial Limb Girdle Myasthenia Syndrome  
408      AGRN  Sequencing 110600
465      DOK7  Sequencing 110600
414      DOK7, AGRN  Sequencing 254300
594      GFPT1  Sequencing 610542
  Familial Rhabdomyolysis  
369      LPIN1  Sequencing 268200
  Fanconi Anemia  
720      Fanconi Anemia Panel via Sequencing of the FANCA, FANCC, FANCG  Genes 227650
721      FANCA  Sequencing 227650
883      FANCB  Sequencing 227650
722      FANCC  Sequencing 227650
884      FANCD2  Sequencing 227650
724      FANCE  Sequencing 227650
725      FANCF  Sequencing 227650
723      FANCG  Sequencing 227650
885      FANCI  Sequencing 227650
726      FANCJ/BRIP1  Sequencing 227650
729      FANCL  Sequencing 227650
727      FANCM  Sequencing 227650
728      FANCN/PALB2  Sequencing 227650
  Fanconi-Bickel Syndrome (GSD, Type XI)  
170      SLC2A2  Sequencing 227810
  Fatty Acid Oxidation Disorders  
180 - 182      ACADM  Sequencing 201450 
183      ACADS  Sequencing 201470
184      ACADVL  Sequencing 201475
  Fetal Akinesia Deformation Sequence  
413      DOK7, RAPSN  Sequencing Panel 208150
465      DOK7  Sequencing 610285
466      RAPSN  Sequencing 608931
  FG Syndrome Type 1 / Lujan Syndrome  
398      MED12  Sequencing 300188
  Fibrochondrogenesis  
831      COL11A1  Gene Sequencing 154780
  Freeman-Sheldon Syndrome  
337      MYH3  Sequencing 193700
  Fructose-1,6-Bisphosphatase Deficiency  
238      FBP1  Sequencing 229700
  Fukuyama Congenital Muscular Dystrophy  
343      FKTN/FCMD Gene Sequencing 236670
354      FKTN Japanese Founder Mutation 236670
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- G -

Gene Disease / Syndrome OMIM
  Galactosemia  
201      GALT  Sequencing 230400
  Gaucher Disease  
479      GBA  Sequencing 230800
  Gaucher Disease, Atypical Form  
511      PSAP  Sequencing 610539
  GDF5-Related Disorders  
852      GDF5  Sequencing 601146
  Glutaric Acidemia I  
210      GCDH  Sequencing 231670
  Glycogen Storage Disease  
220      GYS2  Sequencing (Type 0) 240600
221      G6PC  Sequencing (Type Ia) 232200
222      SLC37A4  Sequencing (Type Ib) 232220
223      GAA  Sequencing (Type II) 232300
224      AGL  Sequencing (Type III) 232400
225      GBE1  Sequencing (Type IV) 232500
418      LAMP2  Sequencing (Type IIb) 300257
226 - 228      PYGM  Sequencing (Type V) 232600
229      PYGL  Sequencing (Type VI) 232700
230      PFKM  Sequencing (Type VII) 232800
231      PHKA1  Sequencing (Type IX) 300559
232      PHKA2  Sequencing (Type IX) 306000
233      PHKB  Sequencing (Type IX) 306000 
235      PHKG2  Sequencing (Type IX) 306000 
170      SLC2A2  Sequencing (Type XI) 227810
       Link to Glycogen Storage Disease Support Group  
  Glycogen Storage Disease of Heart, Lethal Congenital
 
199      PRKAG2 Testing 194200
  Glycyl tRNA Synthetase-Related Disorders  
383      GARS  Sequencing 601472
  GM1 Gangliosidosis and Morquio Syndrome Type B  
477      GLB1  Sequencing 230500
  Greig Cephalopolysyndactyly Syndrome  
380      GLI3  Sequencing 146510
  Griscelli Syndrome  
213      RAB27A  Sequencing (Type 2; GS2) 607624
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- H -

Gene Disease / Syndrome OMIM
  Heat Shock 22/27 kDa Protein-Related Disorders  
387      HSPB1  Sequencing 606595
389      HSPB8  Sequencing 608673
  Hennekam Lymphangiectasia-Lymphedema Syndrome  
284      CCBE1  Sequencing 235510
  Hereditary Breast Cancer  
714      CHEK2  Sequencing 114480
  Hereditary Hemorrhagic Telangiectasia  
860      HHT Sequencing Panel 187300
862      ACVRL1/ALK1  Sequencing (Type 2--Osler-Weber-Rendu Disease) 187300
861      ENG  Sequencing (Type 1--Osler-Weber-Rendu Disease) 187300
709      SMAD4  Sequencing 608456
  Hereditary Multiple Osteochondromas (HMO)  
806-808      EXT1/EXT2  Sequencing 133701
  Hermansky-Pudlak Syndrome  
760      Hermansky-Pudlak Syndrome (HPS) Panel 203300
762      AP3B1  Sequencing 603401
768      BLOC1S3  Sequencing 609762
767      DTNBP1  Sequencing 607145
761      HPS1  Sequencing 203300
763      HPS3  Sequencing 606118
764      HPS4  Sequencing 606682
765      HPS5  Sequencing 607521
766      HPS6  Sequencing 607522
  Heterotaxy  
745      Kartagener’s Syndrome Gene Sequencing Panel 244400
935      Visceral 4 (HTX4) ACVR2B Gene Sequencing 613751
931      Visceral 5 (HTX5) NODAL Gene Sequencing 270100
932      ZIC3 Gene Sequencing Panel 300265
  Hirschsprung Disease  
791      RET Sequencing Panel 142623
  Holoprosencephaly (Autosomal Dominant, Nonsyndromic)  
580      Holoprosencephaly via SHH, ZIC2, SIX3, TGIF1, PTCH1, GLI2  Sequencing 236100
586      GLI2  Sequencing 236100
585      PTCH1  Sequencing 236100
581      SHH  Sequencing 236100
583      SIX3  Sequencing 236100
584      TGIF1  Sequencing 236100
582      ZIC2  Sequencing 236100
  Holt-Oram Syndrome (HOS)  
785      TBX5  Sequencing 601620
  Hyperammonemia  
554      CPS1 Sequencing 311250
  Hypertrophic Cardiomyopathy  
190-193      Hypertrophic Cardiomyopathy via Sequential Testing of Eight Sarcomeric Genes 192600
174      ACTC1  Sequencing 192600
198      ACTN2  Sequencing 192600
196      CSRP3  Sequencing 192600
173      MYBPC3  Sequencing 192600
197      MYH6  Sequencing 192600
172      MYH7  Sequencing 192600
175      MYL2  Sequencing 192600
176      MYL3  Sequencing 192600
468      TCAP  Sequencing 192600
194      TNNC1  Sequencing 192600
178      TNNI3  Sequencing 192600
179      TNNT2  Sequencing 192600
177      TPM1  Sequencing 191010
144      VCL  Sequencing 192600
  Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
 
199      PRKAG2 Testing 194200
  Hypochondroplasia
 
428      FGFR3 Sequencing 146000
429      FGFR3 Sequencing 146000
  Hypophosphatasia
 
851      ALPL Sequencing 171760
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- I -

Gene Disease / Syndrome OMIM
  Inclusion Body Myopathy  
367      GNE  Sequencing 147421
361      MYH2  Sequencing 147421
597      VCP  Sequencing 167320
  Infantile-Onset Ascending Hereditary Spastic Paralysis  
108      ALS2  Sequencing 105400
  Integrin Alpha 7-Related Congenital Myopathy Testing  
244      ITGA7  Sequencing 600536
  Isovaleric Acidemia  
250      IVD  Sequencing 243500
       Link to Organic Acidemia Association  
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- J -

Gene Disease / Syndrome OMIM
  Jarcho-Levin Syndrome  
423      MESP2  Sequencing 277300/608681
  Joubert Syndrome  
294      Joubert Syndrome Sequencing Panel 213300
266      AHI1  Sequencing 213300
277      ARL13B  Sequencing 213300
267      CEP290  Sequencing 213300
279      INPP5E  Sequencing 213300/249000
274      TMEM67/MKS3  Sequencing 213300/249000
275      NPHP1  Deletion Testing 256100
651      NPHP1  Sequencing 256100
276      RPGRIP1L  Sequencing  
576      TCTN2  Sequencing  
291      TMEM216  Sequencing 213300
       Clinical Features Checklist  
       Link to Joubert Syndrome Support Group  
  Joubert Syndrome and Meckel-Gruber Syndrome  
278       CC2D2A Sequencing 213300
  Juvenile Amyotrophic Lateral Sclerosis, Autosomal Recessive  
108       ALS2  Sequencing 105400
  Juvenile Polyposis Syndrome (JPS)  
708      BMPR1A  Sequencing 608456
709      SMAD4  Sequencing 608456
  Juvenile Primary Lateral sclerosis, Autosomal Recessive  
108      ALS2  Sequencing 105400
Back to Top

- K -

Gene Disease / Syndrome OMIM
  Kartagener's Syndrome  
745      Gene Sequencing Panel 244400
  Klippel-Feil Syndrome via GDF6 Gene Sequencing  
424      GDF6  Sequencing 118100
  Kniest Dysplasia  
788      COL2A1  Sequencing 120140
  Knoblock Syndrome, Type I  
641      COL18A1  Sequencing 267750
  Kostmann Disease  
446      HAX1  Sequencing 202700
  Krabbe Disease  
631      GALC  Sequencing 245200
632      GALC  Deletion Test 245200
  Krabbe Disease, Atypical Form  
511      PSAP  Sequencing 611722
Back to Top

- L -

Gene Disease / Syndrome OMIM
  L1 Syndrome  
304      L1CAM Sequencing 307000
  Laminopathies  
347      Charcot-Marie-Tooth disease type 2B1: LMNA Sequencing 605588
347      Dilated Cardiomyopathy, Dominant (CMD1A): LMNA Sequencing 115200
347      Dunnigan-type Familial Partial Lipodystrophy, Dominant(FPLD2): LMNA      Sequencing 151660
347      Emery-Dreifuss Muscular Dystrophy, Dominant (EDMD2): LMNA      Sequencing 181350
347      Emery-Dreifuss Muscular Dystrophy, Recessive (EDMD3: LMNA      Sequencing 604929
347      Hutchinson-Gilford Progeria Syndrome via LMNA  Sequencing 176670
       Link to Progeria Support Group  
347      LGMD1B: LMNA  Sequencing 159001
347      Mandibuloacral Dysplasia via LMNA  Sequencing  
  Laron Syndrome / Pituitary Dwarfism II (Growth Hormone Insensitivity)  
627       GHR Sequencing 262500
  Leber Congenital Amaurosis  
681      CRB1  Sequencing 204100
665      CRX  Sequencing 204000
664      IMPDH1  Sequencing 26800
821      RDH12  Sequencing 204000
682      RPE65  Sequencing 204100
683      TULP1  Sequencing 602280
  Left Ventricular Noncompaction  
149      TAZ Sequencing 302060
  LEOPARD Syndrome  
377      PTPN11  Sequencing 151100
       Link to Noonan Syndrome Support Group  
  Leukocyte Adhesion Deficiency Type 2 (LADII)  
516      SLC35C1 Sequencing 116920
  Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy  
610      EIF2B1 - EIF2B5  Sequencing 603896
  Li-Fraumeni Syndrome  
713      TP53  Sequencing 151623
  Limb Girdle Muscular Dystrophy  
469      ANO5 Sequencing 608622
341      CAPN3  Sequencing 253600
467      CAV3  Sequencing 607801
465      DOK7  Sequencing 110600
342      DYSF  Sequencing 253601
344      FKRP  Sequencing 607155
347      LMNA  Sequencing 176670
366      MYOT/TTID  Sequencing 159000
352      SGCA  Sequencing 608099
353      SGCB  Sequencing 604286
146      SGCD  Sequencing 115200
165      SGCE  Sequencing 159900
338      SGCG  Sequencing 253700
468      TCAP  Sequencing 601954
385      TTN  Sequencing 608807
  Limb Girdle Muscular Dystrophy, Autosomal Recessive, Panel  
360      CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, TRIM32, FKRP, TTN, ANO5  Sequencing 253600
  Lipodystrophy  
462       AGPAT2  Sequencing 608594
461       BSCL2  Sequencing 606158
347      Dunnigan-type Familial Partial Lipodystrophy, Dominant(FPLD2): LMNA      Sequencing 151660
  Lissencephaly  
502      ARX Sequencing 607432
503      DCX Sequencing 300076
507      PAFAH1B1/LIS1 Sequencing 607432
506      RELN Sequencing 607432
504      TUBA1A Sequencing 611603
505      YWHAE Sequencing 607432
  Loeys-Dietz Syndrome  
396      TGFBR1  Sequencing 154700
397      TGFBR2  Sequencing 154700
  Long QT Syndrome 9  
467      CAV3  Sequencing 611818
  Lujan Syndrome / FG Syndrome Type 1  
398      MED12  Sequencing 309520
  Lymphedema  
284      CCBE1  Sequencing 612753
280      FOXC2  Sequencing 153400
281 - 282      FLT4  Sequencing 153100
283      SOX18  Sequencing 607823
       Link to Lymphatic Research  
  Lynch Syndrome  
701      MLH1  Sequencing 120435
705      MLH3  Sequencing 120435
702      MSH2  Sequencing 120435
703      MSH6  Sequencing 120435
704      PMS1  Sequencing 120435
712      PMS2  Sequencing 120435
Back to Top

- M -

Gene Disease / Syndrome OMIM
  Macular Dystrophy  
663      PRPH2  Sequencing 608161
  Male and Female Infertility  
734      FSHB  Sequencing 136530
  Male Infertility with Large-Headed Spermatozoa  
731      AURKC  Sequencing 243060
  Malignant Hyperthermia / Central Core Disease  
570 - 572      RYR1  Sequencing 145600
       Link to Malignant Hyperthermia Association of the U.S.  
  Mandibuloacral Dysplasia  
347      LMNA  Sequencing 176670
  Maple Syrup Urine Disease  
525      Maple Syrup Urine Disease Sequencing Panel 248600
526      BCKDHA  Sequencing 248600
527      BCKDHB  Sequencing 248600
528      DBT  Sequencing 248600
529      DLD  Sequencing 248600
  Marfan Syndrome  
394      FBN1  Sequencing 154700
  Maroteaux-Lamy Syndrome  
454      ARSB  Sequencing 611542
  Marshall Syndrome  
831      COL11A1  Gene Sequencing 154780
  May-Hegglin Anomaly  
441      MYH9  Sequencing 605249
400      ZMPSTE24  Sequencing 275210
  Meckel Gruber Syndrome  
295      MKS  Sequencing Panel 249000
301 - 303      MKS1  Sequencing 249000
274      TMEM67/MKS3  Sequencing 213300/249000
271 - 273      CEP290  Sequencing 213300
276      RPGRIP1L  Sequencing  
  Meckel-Gruber Syndrome and Joubert Syndrome  
278       CC2D2A Sequencing 213300
  Megalencephalic Leukoencephalopathy with Subcortical Cysts, Autosomal Dominant and Recessive  
602      HEPACAM  Sequencing 604004
601      MLC1  Sequencing 604004
  Menkes Disease and Hereditary Motor Neuropathy, X-Linked  
464      ATP7A  Sequencing 309400
  Mental Retardation  
564      ADSL  Sequencing 103050
561      CUL4B  Sequencing 300354
132      NSD1  Sequencing 117550
297      OPHN1  Sequencing 300486
562      SLC9A6  Sequencing 300231
134      VPS13B (COH1)  Sequencing 216550
  Merosin-Deficient Congenital Muscular Dystrophy  
245      LAMA2 :   Mexican Exon 55 Sequencing 607855
345      LAMA2  Sequencing 607855
  Metachromatic Leukodystrophy  
621      Metachromatic Leukodystrophy Panel 250100
620      ARSA  Sequencing 250100
511      PSAP  Sequencing 250100
  Metaphyseal Chondrodysplasia, Schmid Type (MCDS)  
802      COL10A1  Sequencing 156500
  Methylmalonic Acidemia  
310-313      Sequential Gene Sequencing 251100
326      LMBRD1  Sequencing 277380
312      MMAA  Sequencing 251100
313      MMAB  Sequencing 251100
211      MMACHC  Sequencing 251100
212      MMADHC  Sequencing 277410
311      MUT  Sequencing 251100
       Link to Organic Acidemia Association  
  Microcephaly Type 2  
293      WDR62  Sequencing 604317
  Miller-Dieker Lissencephaly Syndrome  
505      YWHAE Sequential Gene Sequencing 247200
  Minicore Disease; Rigid Spine Muscular Dystrophy; Congenital Fiber-Type Disproportion  
358      ACTA1 Sequencing 102610
570 - 572      RYR1  Sequencing 145600
330      SEPN1 Sequencing 602771
357      TPM3 Sequencing 191030
  Morquio Type A Disease  
455      GALNS  Sequencing 612222
  Motor Neuron Disease  
155      ALS Sequencing Panel (SOD1, FUS, TARDBP, ANG ) 105400
152      FUS Sequencing 137070
153      TARDBP  Sequencing 605078
  Mucolipidosis  
316      GNPTAB  Sequencing 252500
317      GNPTG  Sequencing 252605
  Mucopolysaccharidosis  
454      ARSB  Sequencing 252940
455      GALNS  Sequencing 252940
456      GNS  Sequencing 252940
457      GUSB  Sequencing 252940
458      HGSNAT  Sequencing 252930
485      HYAL1  Sequencing 252940
453      IDS  Sequencing 309900
452      IDUA  Sequencing 607014
484      NAGLU  Sequencing 252940
459      SGSH  Sequencing 252900
  Multiple Carboxylase Deficiency  
520      BTD  Sequencing 253260
521      HLCS  Sequencing 253270
  Multiple Endocrine Neoplasia  
716      CDKN1B  Sequencing 131100
715      MEN1  Sequencing 131100
792-793      RET  Sequencing (MEN2A) and Familial Medullary Thyroid Carcinoma 155240
794      RET  Sequencing (MEN2B) 162300
  Multiple Epiphyseal Dysplasia  
815      MED Sequencing Panel 606718
817      COL9A2  Sequencing 606718
818      COL9A3  Sequencing 606718
816      MATN3  Sequencing 606718
782      SLC26A2  Sequencing 606718
  Multiple Pterygium Syndromes  
415      CHRNA1, CHRND, CHRNG  Sequencing 253290
401      CHRNA1 Sequencing 253290
403      CHRND Sequencing 100720
405      CHRNG Sequencing 100720
  Multiple Sulfatase Deficiency/Mucosulfatidosis  
512      SUMF1  Sequencing 272200
  Muscle-Eye-Brain Disease  
351      POMGnT1  Sequencing 253280/236670
349      POMT2  Sequencing 236670/253280
  Muscular Dystrophy  
       Congenital Muscular Dystrophy  
       Limb Girdle Muscular Dystrophy  
  MUTYH Associated Polyposis (MAP) Syndrome  
706      MUTYH  Sequencing 608456 
  Myofibrillar Myopathy  
595      Sequencing Panel: BAG3, CRYAB, DES, FLNC, LDB3, MYOT  601419 
362      CRYAB  Sequencing 608810 
363      DES  Sequencing  
364      FLNC  Sequencing 609524
365      LDB3  Sequencing 609452
  Myopathy  
358      ACTA1 Sequencing 102610
359      COL6A1-COL6A2-COL6A3 Sequencing 158810
362      CRYAB  Sequencing 608810 
363      DES  Sequencing  
364      FLNC  Sequencing 609524
367      GNE  Sequencing 147421
365      LDB3  Sequencing 609452
361      MYH2  Sequencing 147421
355      NEB Sequencing 256030
356      NEB Exon 55 Deletion 256030
570 - 572      RYR1  Sequencing 145600
330      SEPN1 Sequencing 602771
331      TPM2 Sequencing 190990
357      TPM3 Sequencing 191030
       Link to Beggs Laboratory (Children's Hospital Boston)  
  Myosin Storage Myopathy/Hyaline Body Myopathy  
172      MYH7 Sequencing 608358
  Myotilinopathy  
366      TTID (MYOT)  Sequencing 159000 
Back to Top

- N -

Gene Disease / Syndrome OMIM
  Naxos Disease  
208      JUP Sequencing 173325
  Nemaline Myopathy  
350      Sequencing Panel ACTA1, NEB, NEBx55 Del, TPM2, TPM3, TNNT1, CFL2 161800
358      ACTA1 Sequencing 102610
249      CFL2 Sequencing 601443
598      KBTBD13 Sequencing 609273
355      NEB Sequencing 256030
356      NEB Exon 55 Deletion 256030
332      TNNT1 Sequencing 191041
331      TPM2 Sequencing 605355
357      TPM3 Sequencing 191030
  Neonatal Testing  
150      CFTR Sequencing + 5T/TG Tract Analysis 219700
180 - 182      ACADM  Sequencing 201450
183      ACADS  Sequencing 201470
184      ACADVL  Sequencing 201475
201      GALT  Sequencing 230400
250      IVD  Sequencing 243500
240      HMGCL  Sequencing 246450
320 - 322      MCCC1 and MCCC2 Gene Sequencing 210200/210210
311      MUT  Sequencing 251000
530      PAH Testing 261600
391      PCCA Testing 606054
392      PCCB Testing 606054
 
Nephronopthisis
  
660      Nephronophthisis Gene Sequencing Panel 609294
267      CEP290(NPHP6)  Sequencing 213300
656      GLIS2/NPHP7  Sequencing 602088
652      INVS/NPHP2  Sequencing 602088
655      IQCB1/NPHP5  Sequencing 609254
657      NEK8/NPHP9  Sequencing 609799
275      NPHP1  Deletion Test 256100
651      NPHP1  Sequencing 256100
653      NPHP3  Sequencing 602088
654      NPHP4  Sequencing 602088
276      RPGRIP1L(NPHP8)  Sequencing 213300
659      SDCCAG8  Sequencing 613615
658      XPNPEP3  Sequencing 609294
  Neurofibromatosis-Noonan Syndrome  
115      NF1  Sequencing 601321
  Neurofibromatosis  
117      NF1  Sequencing 162200
118      NF2  Sequencing 101000
116      SPRED1  Sequencing 611431
  Neutropenia  
445      SCN Sequencing Panel 612541
444      ELANE  Sequencing 202700
443      G6PC3  Sequencing 612541
447      GFI1  Sequencing 202700
446      HAX1  Sequencing 202700
440      WAS  Sequencing 301000
  Niemann-Pick Disease, Types C  
473      NPC1 Sequencing 607608
474      NPC2 Sequencing 607608
  Noncompaction Cardiomypathy  
172      MYH7 Sequencing 192600
  Noonan-Like Syndrome with Loose Anagen Hair  
381      SHOC2  Sequencing 602775
  Noonan Syndrome / LEOPARD Syndrome  
378      KRAS  Sequencing 163950
377      LEOPARD PTPN11 Sequencing 151100/163950
115      NF1  Sequencing 601321
370 - 372      Noonan Sequential (PTPN11, SOS1, RAF1, KRAS) 163950
373      Noonan PTPN11 Sequencing 163950
379      NRAS  Sequencing 164790
375      RAF1 Sequencing 163950
376      SOS1 Sequencing 163950
Back to Top

- O -

Gene Disease / Syndrome OMIM
  Oligodontia-Colorectal Cancer  
719      AXIN2  Sequencing 604025
  Oral-Facial-Digital Syndrome Type 1  
296      OFD1  Sequencing 311200
  Organic Acidemias  
240      HMGCL  Sequencing 246450
250      IVD  Sequencing 243500
320 - 322      MCCC1 and MCCC2 Gene Sequencing 210200/210210
311      MUT  Sequencing 251100
391      PCCA Testing 606054
392      PCCB Testing 606054
       Link to Organic Acidemia Association  
  Osteoarthritis with Mild Chondrodysplasia  
788      COL2A1  Sequencing 604864
  Otospondylomegaepiphyseal Dysplasia  
829      COL11A2  Gene Sequencing 184840
  Ovarian Dysgenesis  
733      BMP15  Sequencing 311360
732      FSHR  Sequencing 233300
  Ovarian Hyperstimulation Syndrome  
732      FSHR  Sequencing 608115
  Overgrowth Syndromes  
563      GPC3  Sequencing 312870
132      NSD1  Sequencing 117550
Back to Top

- P -

Gene Disease / Syndrome OMIM
  Paget Disease  
850      Paget Disease of Bone (PDB) Panel 602080
853      SQSTM1  Sequencing 601530
854      TNFRSF11A  Sequencing 603499
855      TNFRSF11B  Sequencing 602643
  Pallister-Hall Syndrome  
380      GLI3  Sequencing 146510
  Palmoplantar Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy and Woolly Hair/Naxos Disease  
208      JUP  Sequencing 601214
  Papillon-Lefevre Syndrome (PLS)  
772      CTSC  Sequencing 245000
  Paroxysmal Paralytic Rhabdomyolysis, Autosomal Recessive  
319      LPIN1  Deletion Testing 268200
  Pattern Dystrophy  
663      PRPH2  Sequencing 169150
  Pelizaeus-Merzbacher Disease  
307      PLP1 Sequencing 312920
  Pena-Shokier Syndrome, Type I (Fetal Akinesia Deformation Sequence)  
413      RAPSN, DOK7  Sequencing 208150
  Perry Syndrome  
382      DCTN1 Sequencing 607641
  Peutz-Jeghers Syndrome  
711      STK11 Sequencing 175200
  Phenylalanine Hydroxylase Deficiency (PKU)
 
530      PAH Testing 261600
  Piebaldism and Familial Gastrointestinal Stromal Tumors
 
718      KIT Testing 172800
  Pigmented Paravenous Chorioretinal Atrophy, Autosomal Dominant
 
681      CRB1 Testing 172870
  PLP1-Related Disorders  
307      PLP1 Sequencing 300401
  Polymicrogyria  
299      GPR56 Sequencing 606854
  Pontocerebellar Hypoplasias  
305      TSEN2 Sequencing 277470
306      TSEN34 Sequencing 277470
298      TSEN54 Sequencing 277470
  Primary Autosomal Recessive Microcephaly Type 2  
293      WDR62  Sequencing 604317
  Primary Ciliary Dyskinesia (PCD)  
750      Primary Ciliary Dyskinesia Sequencing Panel (without Kartagener's Syndrome) 244400
754      CCDC39  Sequencing 613798
755      CCDC40  Sequencing 613799
740-742      DNAH5  Sequencing 244400
743      DNAH11  Sequencing 244400
744      DNAI1  Sequencing 244400
746      DNAI2  Sequencing 244400
756      DNAL1  Sequencing 244400
749      KTU/C14orf104 Sequencing 244400
752      LRRC50  Sequencing 244400
753      RPGR  Sequencing 244400
747      RSPH4A  Sequencing 244400
748      RSPH9  Sequencing 244400
751      TXNDC3  Sequencing 244400
  Primary Pulmonary Hypertension (PPH1) / Pulmonary Arterial Hypertension (PAH)  
801      BMPR2  Sequencing 178600
  PRKAG2-Related Disorders
 
199      PRKAG2 Testing 194200
  Progeria, Hutchinson-Gilford and Progeria Syndromes  
347      LMNA  Sequencing 176670
400      ZMPSTE24  Sequencing 275210
  Progressive Bulbar Palsy With or Without Sensorineural Deafness  
417      C20orf54  Sequencing 613350
  Propionic Acidemia  
390      Sequential Gene Sequencing 606054
391      PCCA Testing 606054
392      PCCB Testing 606054
       Link to Propionic Acidemia Foundation  
       Link to Propionic Acidemia Research Network  
       Link to Organic Acidemia Association  
  Pseudoachondroplasia (PSACH) and Multiple Epiphyseal Dysplasia (MED)  
809      COMP  Sequential Gene Sequencing 177170
  PTEN Hamartoma Tumor Syndrome  
707      PTEN  Sequential Gene Sequencing 601728

Back to Top

- R -

Gene Disease / Syndrome OMIM
  Rapsyn-Related Disorders  
466      RAPSN  Sequencing 608931
  Restrictive Dermopathy, Mandibuloacral Dysplasia  
400      ZMPSTE24  Sequencing 275210
  Retinitis Pigmentosa  
686      CNGA1  Sequencing 123825
687      CNGB1  Sequencing 268000
681      CRB1  Sequencing 204100
665      CRX Sequencing 120970
664      IMPDH1 Sequencing 268000
668      NR2E3 Sequencing 268000
684      PDE6A Sequencing 180071
685      PDE6B Sequencing 180072
669      PRPF3 Sequencing 268000
667      PRPF8 Sequencing 268000
666      PRPF31 Sequencing 268000
663      PRPH2  Sequencing 268000
661      RHO  Sequencing 268000
662      RP1  Sequencing 268000
682      RPE65  Sequencing 204100
683      TULP1  Sequencing 602280
  Retinitis Pigmentosa, Autosomal Recessive Pakistani Consanguineous Families  
662      RP1  Sequencing 268000
  Retinitis Punctata Albescens  
663      PRPH2  Sequencing 136880
661      RHO  Sequencing 610445
  Rippling Muscle Disease  
467      CAV3  Sequencing 606072
  Roberts Syndrome  
836      ESCO2  Sequencing 268300
  Robinow Syndrome, Autosomal Recessive  
136      ROR2  Sequencing 268310

Back to Top

- S -

Gene Disease / Syndrome OMIM
  Sandhoff Disease  
476      HEXB  Sequencing 268800
  Sanfilippo Syndrome  
456      GNS  Sequencing 252940
458      HGSNAT  Sequencing 252930
484      NAGLU  Sequencing 252940
459      SGSH  Sequencing 252940
  Saposin Deficiency, Combined  
511      PSAP  Sequencing 611721
  Sarcoglycanopathies  
352      LGMD2D:  SGCA  Sequencing 608099
353      LGMD2E:  SGCB  Sequencing 604286
165      Dystonia: SGCE  Sequencing 159900
  Scapuloperoneal Myopathy  
172      MYH7  Sequencing 181430
  Seipin-Related Disoders  
461      BSCL2  Sequencing 600794
  Senior-Loken Syndrome  
271      CEP290/NPHP6  Sequencing 213300
655      IQCB1/NPHP5  Sequencing 609254
275      NPHP1  Sequencing 606995
653      NPHP3  Sequencing 606995
654      NPHP4  Sequencing 606966
659      SDCCAG8  Sequencing 613615
  Severe Congenital Neutropenia  
445      SCN Sequencing Panel 612541
444      ELANE  Sequencing 202700
443      G6PC3  Sequencing 612541
447      GFI1  Sequencing 202700
446      HAX1  Sequencing 202700
440      WAS  Sequencing 301000
  Sheldon-Hall Syndrome  
337      MYH3  Sequencing 601680
333      TNNI2  Sequencing 193700
334      TNNT3  Sequencing 193700
  Short Rib Polydactyly Syndromes Type 5  
292      WDR35  Sequencing 218330
  Short Stature  
628      GHSR  Sequencing 604271
626      SHOX  Sequencing 312865
  Sialuria  
368      GNE  Sequencing 269921
  Simpson-Golabi-Behmel Syndrome  
563      GPC3  Sequencing 312870
296      OFD1  Sequencing 311200
  Skeletal Disorders  
420      Sequential Test (DLL3, MESP2, LFNG) 277300/608681
421      DLL3  Sequencing 277300/608681
424      GDF6  Sequencing 118100
422      LFNG  Sequencing 277300/608681
423      MESP2  Sequencing 277300/608681
  Slow Skeletal Muscle Troponin T  
332      TNNT1  Sequencing 191041
  Sly Syndrome  
457      GUSB  Sequencing 611499
  Small Patella Syndrome  
859      TBX4  Sequencing 147891
  Smith-Lemli-Opitz Syndrome  
410      DHCR7  Sequencing 270400
  Sorsby Fundus Dystrophy, Autosomal Dominant  
699      TIMP3  Sequencing 136900
  Sotos Syndrome  
132      NSD1  Sequencing 117550
  Spastic Paraplegia
461      BSCL2 Sequencing (Type 2) 270685
307      PLP1 Sequencing (Type 2) 300401
  Spinal Muscular Atrophy (non 5q SMA)  
461      BSCL2  Sequencing 600794
382      DCTN1 Sequencing (Type VIIB) 607641
383      GARS Sequencing (Type V) 608634
387      HSPB1 Sequencing, Type IIB 606595
389      HSPB8  Sequencing, Type IIA 608673
339      IGHMBP2  Sequencing 600502
833      TRPV4  Sequencing  
107      VAPB  Sequencing 608627
  Spinal Neurofibromatosis, Familial  
115      NF1  Sequencing 162210
  Sphingolipidoses  
620      ARSA Sequencing 250100
  Spondylocostal Dysostosis  
420      Sequential Test (DLL3, MESP2, LFNG) 277300/608681
421      DLL3  Sequencing 277300/608681
422      LFNG  Sequencing 277300/608681
423      MESP2  Sequencing 277300/608681
  Spondyloepiphyseal Dysplasia, Congenita (SEDc) and Spondylometaepiphyseal Dysplasia, Strudwick Type (SEMD)  
788      COL2A1  Sequencing 183900
  Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL)  
625      DDR2  Sequencing 271665
  Spondyloperipheral Dysplasia (SPD) and Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (PLSDT)  
788      COL2A1  Sequencing 183900
  Spondylothoracic Dysostosis  
423      MESP2  Sequencing 277300/608681
  Stargardt Disease, Autosomal Recessive  
696      ABCA4  Sequencing 248200
  Stationary Night-blindness, Congenital Autosomal Dominant  
685      PDE6B  Sequencing 163500
661      RHO  Sequencing 610445
  Stickler Syndrome  
830      Stickler Syndrome Panel 154780
831      COL11A1  Gene Sequencing 154780
829      COL11A2  Gene Sequencing 184840
788      COL2A1  Gene Sequencing 108300
803-805      COL9A1  Gene Sequencing 604841
817      COL9A2  Gene Sequencing 604841
  Stuttering  
315      Stuttering via GNPTAB, GNPTG and NAGPA Gene Sequencing 607840
316      GNPTAB  Sequencing 607840
317      GNPTG  Sequencing 607838
318      NAGPA  Sequencing 607985
  Synaptic Nuclear Envelope Protein-1 Related Disorders  
246      SYNE1  Sequencing 608441
247      SYNE1  Sequencing (French Canadian Mutation Panel) 608441

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- T -

Gene Disease / Syndrome OMIM
  Tay-Sachs  
478      GM2A Sequencing 272800
475      HEXA Sequencing 272800
  Telethoninopathy Testing  
468      TCAP Sequencing 601954
  Thanatophoric Dysplasia
 
426      FGFR3 Sequencing 146000
  Thrombotic Thrombocytopenia Purpura (TTP)  
430      ADAMTS13  Sequencing 604134
  Thrombocytopenia  
431      GATA1  Sequencing 305371
432      Bernard-Soulier Sequential(GP1BA, GP1BB, GP9) 231200
433      GP1BA  Sequencing 606672
434      GP1BB  Sequencing 138720
435      GP9  Sequencing 173515
436      MASTL  Sequencing 608221
437      MPL  Sequencing 159530
441-442      MYH9  Sequencing 160775
439      RUNX1  Sequencing 151385
440      WAS  Sequencing 300392
  Tibial Muscular Dystrophy  
385      TTN Sequencing 608807
  Townes-Brocks Syndrome  
835      SALL1 Sequencing 107480
  TP63-Related Disorders  
834      TP63 Sequencing  
  Tricho-rhino-phalangeal Syndrome  
814      TRPS1 Sequencing 190351
  Trimethylaminuria  
324      FMO3  Sequencing 602079
  Tropomyosin 2-Related Myopathies  
331      TPM2  Sequencing 190990
  Tropomyosin 3-Related Myopathies  
357      TPM3  Sequencing 191030
  TRPV4-Related Disorders  
833      TRPV4  Sequencing  
  Tyrosine Hydroxylase Deficiency-Related Disorders  
159      TH Sequencing 605407
  Tyrosinemia  
541      FAH Sequencing 276700

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- U -

Gene Disease / Syndrome OMIM
  Ullrich Congenital Muscular Dystrophy  
359      COL6A1-COL6A2-COL6A3 Sequencing 254090
  Urea Cycle Disorders  
552      ARG1 Sequencing 207800
553      ASS1 Sequencing 215700
554      CPS1 Sequencing 215700
555      NAGS Sequencing 311250
551      OTC Sequencing 300461
  Usher Syndrome Type 1  
645      Usher Syndrome via Sequential Sequencing of MYO7A, CDH23, PCDH15 and USH1C Genes 276900
642      CDH23 Sequencing 276900
647      CLRN1 Sequencing 276902
697      DFNB31 Sequencing 276901
698      GPR98 Sequencing 276901
643      MYO7A Sequencing 276900
644      PCDH15 Sequencing 276900
646      USH1C Sequencing 276900
649      USH1G Sequencing 276900
648      USH2A Sequencing 276101

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- V -

Gene Disease / Syndrome OMIM
  Valosin-Containing Protein-Related Disorders  
597      VCP  Sequencing 167320
  Van der Knaap Disease  
602      HEPACAM  Sequencing 604004
601      MLC1  Sequencing 604004
  Ventricular Tachycardia  
450      RYR2 Sequencing 604772
  Vision Disorders  
686      CNGA1  Sequencing 123825
687      CNGB1  Sequencing 268000
681      CRB1  Sequencing 204100
665      CRX  Sequencing 204000
664      IMPDH1 Sequencing 268000
641      Knobloch Syndrome, Type I via COL18A1 Sequencing 267750
668      NR2E3 Sequencing 268000
684      PDE6A Sequencing 180071
685      PDE6B Sequencing 180072
694      PDE6C Sequencing 180072
669      PRPF3 Sequencing 268000
667      PRPF8 Sequencing 268000
666      PRPF31 Sequencing 268000
663      PRPH2 Sequencing 268000
661      RHO Sequencing 268000
662      RP1 Sequencing 268000
682      RPE65  Sequencing 204100
683      TULP1  Sequencing 602280
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- W -

Gene Disease / Syndrome OMIM
  Walker-Warburg Syndrome  
340      Dystroglycanopathy Sequential Panel (FKRP, FKTN, POMT1, POMT2      POMGnT1, LARGE) 236670
343      FKTN / FCMD Gene Sequencing 236670
344      FKRP Gene Sequencing 607155
346      LARGE Gene Sequencing 236670/608840
351      POMGnT1 Gene Sequencing 253280/236670
348      POMT1 Gene Sequencing 236670/609308
349      POMT2 Gene Sequencing 236670/253280
  Watson Syndrome/Pulmonic Stenosis with CafĂ© au Lait Spots  
115      NF1  Sequencing 193520
  Weissenbacher-Zweymuller Syndrome  
829      COL11A2  Gene Sequencing 184840
  White Matter Disorders  
610      Leukoencephalopathy with Vanishing White Matter and      Ovarioleukodystrophy: EIF2B1-EIF2B5 Sequencing 603896
  Wilson Disease  
460      ATP7B Sequencing 277900 
  Wiskott-Aldrich Syndrome  
440      WAS Sequencing 301000
  Wolff-Parkinson-White Syndrome
 
199      PRKAG2 Testing 194200
  Wolman Disease and Cholesteryl Ester Storage Disease
 
482      LIPA Sequencing 178000
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- X -

Gene Disease / Syndrome OMIM
  X-Linked Dilated Cardiomyopathy  
149      TAZ Sequencing 302060
  X-Linked Heterotaxy  
932      ZIC3 Gene Sequencing 300265
  X-Linked Lissencephaly-2  
502      ARX Gene Sequencing 247200
  X-Linked Recessive Joubert Syndrome-10  
296      OFD1 Gene Sequencing 311200
  X-Linked Retinitis Pigmentosa (XLRP)  
680      RP2 Gene Sequencing 268000
679      RPGR Gene Sequencing 268000
  X-Linked Spondyloepiphyseal Dysplasia Tarda (SEDT)  
819      TRAPPC2 Gene Sequencing 313400
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- Other Tests -

Gene Disease / Syndrome OMIM
100 Single Exon Sequencing in any gene that we test  
200 Double Exon Sequencing in any gene that we test  
300 Triple Exon Sequencing in any gene that we test  
500 DNA Banking  
600 High Density Gene-Centric Deletion and Amplification Array CGH