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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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

Gene Disease / Syndrome OMIM
  Alagille Syndrome  
427      JAG1  Sequencing 118450
  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
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
  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
  Arthrogryposis, Distal  
337      MYH3 Sequencing 193700
331      TPM2 Sequencing 108120
  Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome  
591      VIPAR Sequencing 208085
248      VPS33B Sequencing 608552
  Autosomal Recessive Polycystic Kidney Disease  
101 - 103      PKHD1  Sequencing 263200
  Autosomal Recessive Spinocerebellar Ataxia  
109      SETX  Sequencing 608465
246      SYNE1  Sequencing 608441

- B -

Gene Disease / Syndrome OMIM
  Bardet-Biedl Syndrome  
269      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
263      TRIM32/BBS11 Sequencing 209900
259      TTC8/BBS8 Sequencing 209900
  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
  Brachydactyly, Type B1  
136      ROR2 Sequencing 268310
  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  
  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
  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  
  Childhood Recurrent Acute Myoglobinuria, Autosomal Recessive
369      LPIN1 Sequencing 268200
  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
  Cohen Syndrome
134      VPS13B (COH1) Sequencing 216550
  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
  Congenital Fiber Type Disproportion
358      ACTA1 Sequencing 102610
330      SEPN1 Sequencing 602771
357      TPM3 Sequencing 191030
  Congenital Generalized Lipodystrophy
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
  Costello Syndrome  
140 - 142      HRAS Sequencing 218040
  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
  Dilated Cardiomyopathy  
172      MYH7 Sequencing 192600
468      TCAP Sequencing 115200
  Distal Arthrogryposis  
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
  Dunnigan-Type Familial Partial Lipodystrophy, Dominant (FPLD2)  
347      LMNA Sequencing 151660
  Dynactin-Related Disorders  
382      DCTN1 Sequencing 607641
  Dystonia  
160      DRD2  Sequencing 128100
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
 
 Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant (EDMD2)  
347      LMNA Sequencing 181350
  Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive  
347      LMNA Sequencing 604929
246      SYNE1 Sequencing 608441
  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  
       CHRNG Sequencing  
  Eye Diseases  
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
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
  Faber Lipogranulomatosis  
481      GLA  Sequencing 228000
  Fabry Disease  
471      GLA  Sequencing 300644
  Familial Hemophagocytic Lymphohistiocytosis  
215      FHL Panel: PRF1, UNC13D, STX11, STXBP2  Sequencing 267700
216      PRF1  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
  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
  Freeman-Sheldon Syndrome  
337      MYH3  Sequencing 193700
  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
  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
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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
  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
 
3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency
  
240      HMGCL  Sequencing 246450
  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
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
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- I -

Gene Disease / Syndrome OMIM
  Inclusion Body Myopathy  
367      GNE  Sequencing 147421
361      MYH2  Sequencing 147421
  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
271 - 273      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  
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 Primary Lateral sclerosis, Autosomal Recessive  
108      ALS2  Sequencing 105400
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- K -

Gene Disease / Syndrome OMIM
  Klippel-Feil Syndrome via GDF6 Gene Sequencing  
424      GDF6  Sequencing 118100
  Knoblock Syndrome, Type I  
641      COL18A1  Sequencing 267750
  Krabbe Disease  
631      GALC  Sequencing 245200
632      GALC  Deletion Test 245200
  Krabbe Disease, Atypical Form  
511      PSAP  Sequencing 611722
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- L -

Gene Disease / Syndrome OMIM
  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  
  Leber Congenital Amaurosis  
681      CRB1  Sequencing 204100
665      CRX  Sequencing 204000
664      IMPDH1  Sequencing 26800
682      RPE65  Sequencing 204100
683      TULP1  Sequencing 602280
  LEOPARD Syndrome  
377      PTPN11  Sequencing 151100
       Link to Noonan Syndrome Support Group  
  Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy  
610      EIF2B1 - EIF2B5  Sequencing 603896
  Limb Girdle Muscular Dystrophy  
469      ANO5/TMEM16E  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
165      SGCE  Sequencing 159900
338      SGCG  Sequencing 253700
468      TCAP  Sequencing 601954
385      TTN  Sequencing 608807
  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  
280      FOXC2  Sequencing 153400
281 - 282      FLT4  Sequencing 153100
283      SOX18  Sequencing 607823
       Link to Lymphatic Research  
  Lynch Syndrome  
701      MLH1  Sequencing 120435
702      MSH2  Sequencing 120435
703      MSH6  Sequencing 120435
704      PMS1  Sequencing 120435
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- M -

Gene Disease / Syndrome OMIM
  Macular Dystrophy  
663      PRPH2  Sequencing 608161
  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
  Marfan Syndrome  
394      FBN1  Sequencing 154700
  Maroteaux-Lamy Syndrome  
454      ARSB  Sequencing 611542
  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
  Mental Retardation  
561      CUL4B  Sequencing 300354
132      NSD1  Sequencing 117550
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
  3-Methylcrotonyl-CoA Carboxylase Deficiency  
320 - 322      MCCC1 and MCCC2 Gene Sequencing 210200/210210
  3-Methylglutaconic Aciduria Type I  
323      AUH Gene Sequencing 250950
  Methylmalonic Acidemia  
310 - 313      Sequential Gene Sequencing 251100
311      MUT  Sequencing 251100
312      MMAA  Sequencing 251100
313      MMAB  Sequencing 251100
       Link to Organic Acidemia Association  
  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      TPM3Sequencing 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 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  
  Myofibrillar Myopathy  
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 
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- N -

Gene Disease / Syndrome OMIM
  Naxos Disease  
208      JUP Sequencing 173325
  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
  Nemaline Myopathy  
358      ACTA1 Sequencing 102610
249      CFL2 Sequencing 601443
355      NEB Sequencing 256030
356      NEB Exon 55 Deletion 256030
332      TNNT1 Sequencing 191041
331      TPM2 Sequencing 605355
357      TPM3 Sequencing 191030
 
Nephronopthisis
  
268      Nephronophthisis Gene Sequencing Panel 609294
271      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
  Neurofibromatosis-Noonan Syndrome  
115      NF1  Sequencing 601321
  Neurofibromatosis  
117      NF1  Sequencing 162200
118      NF2  Sequencing 101000
116      SPRED1  Sequencing 611431
  Niemann-Pick Disease, Types A and B  
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
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- O -

Gene Disease / Syndrome OMIM
  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  
  Overgrowth Syndromes  
563      GPC3  Sequencing 312870
132      NSD1  Sequencing 117550
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- P -

Gene Disease / Syndrome OMIM
  Pallister-Hall Syndrome  
380      GLI3  Sequencing 146510
  Palmoplantar Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy and Woolly Hair/Naxos Disease  
208      JUP  Sequencing 601214
  Pattern Dystrophy  
663      PRPH2  Sequencing 169150
  Pena-Shokier Syndrome, Type I (Fetal Akinesia Deformation Sequence)  
413      RAPSN, DOK7  Sequencing 208150
  Perry Syndrome  
382      DCTN1 Sequencing 607641
  Phenylalanine Hydroxylase Deficiency (PKU)
 
530      PAH Testing 261600
  Pigmented Paravenous Chorioretinal Atrophy, Autosomal Dominant
 
681      CRB1 Testing 172870
  PRKAG2-Related Disorders
 
199      PRKAG2 Testing 194200
  Progeria, Hutchinson-Gilford and Progeria Syndromes  
347      LMNA  Sequencing 176670
400      ZMPSTE24  Sequencing 275210
  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  

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- 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
  Robinow Syndrome, Autosomal Recessive  
136      ROR2  Sequencing 268310

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- 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
  Sheldon-Hall Syndrome  
337      MYH3  Sequencing 601680
333      TNNI2  Sequencing 193700
334      TNNT3  Sequencing 193700
368      GNE  Gene, Exon 5 Sequencing 269921
  Simpson-Golabi-Behmel Syndrome  
563      GPC3  Sequencing 312870
  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
  Smith-Lemli-Opitz Syndrome  
410      DHCR7  Sequencing 270400
  Sotos Syndrome  
132      NSD1  Sequencing 117550
  Spastic Paraplegia 17
461      BSCL2 Sequencing (Type 2) 270685
  Spinal Muscular Atrophy with Respiratory Distress Type 1  
339      IGHMBP2  Sequencing 600502
  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
  Spondylothoracic Dysostosis  
423      MESP2  Sequencing 277300/608681
  Stationary Night-blindness, Congenital Autosomal Dominant  
685      PDE6B  Sequencing 163500
661      RHO  Sequencing 610445
  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
  Tibial Muscular Dystrophy  
385      TTN Sequencing 608807
  Thrombocytopenia  
430      ADAMTS13  Sequencing 604134
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
  Tyrosine Hydroxylase Deficiency-Related Disorders  
159      TH Sequencing 605407
  Tyrosinemia  
541      FAH Sequencing 276700

Back to Top

- 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

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- V -

Gene Disease / Syndrome OMIM
  Ventricular Tachycardia  
450      RYR2 Sequencing 604772
Back to Top

- 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
  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 Lissencephaly-2  
502      ARX Gene Sequencing 247200
Back to Top

- 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  
480 Sex Chromosome Panel  
490 DNA Identity Panel  
       Gender Analysis, Zygosity Testing, Specimen Matching  
510 Genome Polymorphism Scan  
600 High Density Gene-Centric Deletion and Amplification Array CGH