Patents Held

Test Code Test Name U.S. Patent No.
871 BBS1 (BBS) DNA Sequencing Test 6,962,788
     
872 BBS2 (BBS) DNA Sequencing Test 7,008,782, 6,962,788
     
827 ABCC8 (CH) DNA Sequencing Test 6,054,313
     
876 ABCC8 (NDM) DNA Sequencing Test 6,054,313
     
483 AChR/MuSK Reflexive Antibody Test 7,267,820, 7,732,147
     
179 ADmark® Early Onset Alzheimer's Evaluation 6,117,978 6,194,153, 6,531,586 6,210,919, 6,998,467, 6,485,911, 5,840,540, 5,986,054, 7,846,679, 7,838,247
     
167 ADmark® PS-1 DNA Sequencing Test 6,194,153, 6,210,919, 6,531,586, 6,998,467
     
169 ADmark® PS-2 DNA Sequencing Test 6,485,911, 6,117,978, 5,840,540, 7,838,247
     
178 ADmark® Alzheimer's Evaluation 5,843,779, 5,861,257 6,010,913 6,114,133
     
177 ADmark® Phospho-Tau/Total-Tau/Ab42 CSF Analysis & Interpretation (Symptomatic) 5,843,779, 5,861,257, 6,010,913, 6,114,133
     
493 Aprataxin DNA Sequencing Test 7,119,186, 7,824,860
     
352 Ataxia-Telangiectasia (ATM) DNA Deletion Analysis 5,955,279, 6,951,724, 6,458,536
     
351 Ataxia-Telangiectasia (ATM) DNA Sequencing Analysis 5,955,279, 6,951,724, 6,458,536
     
531 Atlastin (SPG3A) DNA Sequencing Test 7,649,088, 7,108,975, 7,582,425
     
812 Autoimmune Polyglandular Syndrome (AIRE) Evaluation 7,217,806, 7,785,789
     
697 Autosomal Dominant Ataxia Evaluation 5,741,645, 5,840,491, 5,853,995, 6,303,307, 6,280,938, 6,514,755, 6,524,791, 6,673,535, 6,844,431, 6,855,497, 7,118,893, 7,329,487, 7,585,629, 7,655,401, 7,741,458, 8,247,173, 8,748,096, 8,975,018, 8,163,483
     
653 Autosomal Dominant Hereditary Spastic Paraplegia Evaluation 6,924,126, 7,108,975, 7,582,425, 7,811,762, 7,649,088 
     
693 Autosomal Recessive Ataxia Evaluation 7,824,860, 7,119,186
     
887 Bardet-Biedl Syndrome Evaluation 7,008,782, 6,962,788, 7,947,479, 8,129,161
     
837 CEL (MODY8) Mutation Analysis 5,827,683
     
277 Co-GM1 Quattro™ 5,989,829, 5,985,578, 6,077,681, 6,824,999, 6,020,140
     
861 COL1A1 (OI) DNA Sequencing Test 6,265,157
     
696 Complete Ataxia Evaluation 5,741,645, 5,840,491, 5,853,995, 6,150,091, 6,303,307, 6,280,938, 6,514,755, 6,524,791, 6,844,431, 6,673,535, 6,855,497, 7,118,893, 7,119,186, 7,329,487, 7,527,931, 7,585,629, 7,655,401, 7,824,860, 8,163,483
     
353 Complete Ataxia-Telangiectasia (ATM) Evaluation 5,955,279, 6,951,724
     
286 Complete Dejerine Sottas Neuropathy 5,786,927, 727,698, 7,537,899
     
655 Complete Hereditary Spastic Paraplegia Evaluation 6,924,126, 7,108,975, 7,582,425, 7,811,762
     
243 Complete HNPP Evaluation 5,780,223, 5,599,920, 5,306,616
     
147 Complete Myotonia Evaluation 5,955,265, 5,977,333, 6,902,896, 7,442,782
     
126 Complete Myotonic Dystrophy Evaluation 5,955,265, 5,977,333
     
761 Complete PKD Evaluation 6,228,591, 6,031,088, 7,294,465, 7,553,644, 6,916,619, 7,521,190, 7,273,701, 7,083,915, 8,530,161
     
153 Complete Rett Syndrome Evaluation 6,709,817, 7,670,773, 8,637,236
     
573 Complete SCN1A Evaluation 7,078,515
     
215 Complete SMA Evaluation (Reflexive) 6,080,577, 7,033,752, 8,394,932, 8,962,269
     
556 Complete Tuberous Sclerosis Evaluation 6,326,483, 6,232,452, 6,548,258
     
819 Congenital Hyperinsulinism Evaluation 6,054,313, 5,723,593 
     
245 Congenital Hypomyelination Evaluation 5,876,927
     
329 Connexin Related Deafness Evaluation 5,998,147, 6,485,908, 7,258,975, 8,455,195, 8,143,000
     
133 Connexin32 DNA Sequencing Test 5,691,144, 6,001,576
     
     
143 Connexin32 Evaluation 5,691,144, 6,001,576
     
     
674 CSTB (EPM1) Evaluation 6,432,635
     
     
321 Cx26 DNA Sequencing Test 5,998,147, 6,485,908, 7,258,975, 8,455,195, 8,143,000
     
     
108 DM1 DNA Test 5,955,265, 5,977,333
     
     
110 DM2 DNA Test 6,902,896, 7,442,782
     
     
561 Dysferlin Protein Blood Test 7,172,858
     
     
626 Dystonia (DYT1) DNA Test 6,387,616, 6,921,814
     
     
207 Early Onset Myotonia Evaluation 5,955,265, 5,977,333
     
     
722 Early Onset Nephrotic Syndrome Evaluation 7,105,291, 6,207,811, 6,924,110, 7,388,086, 7,799,529
     
     
881 Endocrine Hypertension (HSD11B2) Evaluation 5,883,240, 5,780,223
     
     
296 Entrapment Neuropathy Evaluation 5,780,223
     
     
187 Familial Hemiplegic Migraine Type I (CACNA1A) DNA Test 5,714,319
     
     
119 Friedreich Ataxia DNA Test 6,150,091
     
     
348 Friedreich's Ataxia DNA Sequencing Analysis 6,150,091
     
     
349 Friedreich's Ataxia Profile 6,150,091
     
     
     
770 Hereditary Interstitial Kidney Disease Assay 7,781,164, 8,759,001
     
     
802 HNF4A (MODY1) DNA Sequencing and Deletion Test 6,187,533
     
     
717 Inherited Focal and Segmental Glomerulosclerosis (FSGS) Evaluation 6,924,110, 7,388,086, 7,745,597
     
     
874 Lipoid CAH (StAR) Evaluation 5,807,678, 5,872,230
     
     
222 LITAF/SIMPLE DNA Sequencing Test 7,449,291
     
     
811 LRP5 (OPPG) DNA Sequencing Test 6,545,137, 6,555,654, 7,244,577
     
     
821 LRP5 Idiopathic Osteoporosis (IOP) DNA Sequencing Test 6,545,137, 6,555,654, 7244,577
     
     
543 LRRK2 DNA Test 7,544,786, 7,993,841
     
     
145 MAG 'Dual Antigen'® Autoantibody Test 6,599,756, 6,951,763
     
     
223 MFN2 DNA Sequencing Test 7,727,717, 8,206,922, 8,975,020
     
     
885 Monogenic Diabetes (MODY) Evaluation 5,827,683, 6,187,533, 6,274,310
     
     
346 Motor Neuropathy Profile - Complete 6,599,756 6,951,763 , 5,807,705, 6,020,140 6,077,681, 6,824,999
     
     
482 MuSK Antibody Test 7,267,820, 7,732,147
     
     
134 Myelin Protein Zero (MPZ) DNA Sequencing Test 5,876,927
     
     
438 NeoCerebellar Degeneration Paraneoplastic Profile with Recombx 7,329,499, 5,925,526, 5,807,705, 6,387,639, 7,026,450
     
     
4620 NeoComplete Paraneoplastic Profile with Recombx 7,329,499, 5,925,526, 5,807,705, 6,387,639 7,026,450
     
     
4722 NeoEncephalitis Paraneoplastic Profile with Recombx 7,329,499, 5,807,705, 6,387,639, 7,026,450
     
     
882 Neonatal Diabetes Mellitus Evaluation 6,054,313, 5,863,724
     
     
360 NeoSeM® Basic Paraneoplastic Profile 5,925,526, 5,807,705
     
     
436 NeoSensory Neuropathy Paraneoplastic Profile with Recombx™ 7,329,499, 5,807,705
     
     
532 NIPA1 (SPG6) DNA Sequencing Test 7,332,282, 8,518,638
     
     
846 Noonan Syndrome (PTPN11) DNA Sequencing Test 7,335,469
     
     
421 Notch3 DNA Sequencing Test  7,138,234
     
     
730 NPHS1 (Nephrin) Sequencing Analysis 7,799,529, 7,105,291, 6,207,811
     
     
710 NPHS2 (Podocin) Sequencing Analysis 6,924,110, 7,388,086
     
     
300 OPMD DNA Test 6,828,430, 7,364,852
     
     
239 Periaxin DNA Sequencing Test 7,273,698, 7,537,899
     
     
889 Pheochromocytoma Evaluation 6,312,890, 5759,790
     
     
728 PKDx® Familial Mutation Evaluation 6,656,681, 6,228,591, 6,031,088, 7,294,465, 6,485,960, 6,916,619, 7,273,701, 7,083,915, 7,553,644, 7,521,190, 8,530,161
     
     
725 PKDx® Sequencing Analysis 6,656,681, 6,228,591, 6,031,088, 7,294,465, 6,485,960, 7,553,644, 6,916,619, 7,521,190, 7,273,701, 7,083,915, 7,553,644, 7,521,190, 8,530,161
     
     
247 PMP22 DNA Sequencing Test 5,780,223
     
     
131 PMP22 Duplication/Deletion DNA Test 5,780,223
     
     
816 Primary Adrenal Insufficiency Evaluation 7,217,806, 5,869,039, 7,785,789
     
     
639 Primary Dystonia Evaluation 6,387,616, 6,921,814
     
     
122 Recombx™ MaTa Autoantibody Test 6,387,639, 7,026,450
     
     
123 Recombx™ CV2 Antibody Test 7,329,499, 7,183,400
     
     
120 Recombx™ Hu Autoantibody Test 5,807,705
     
     
125 Recombx™ Yo Autoantibody Test 5,925,526
     
     
529 REEP1 (SPG31) DNA Sequencing Test 7,811,762
     
     
142 Rett Syndrome (MECP2) DNA Sequencing Test 6,709,817, 7,670,773, 8,637,236  
     
     
148 Rett Syndrome (MECP2) Duplication/Deletion Analysis 6,709,817, 7,670,773, 8,637,236
     
     
371 SCA1 DNA Test 5,834,183, 5,741,645
     
     
387 SCA10 DNA Test 6,855,497
     
     
284 SCA13 Select Exon DNA Test 7,585,629, 8,163,483
     
     
593 SCA14 DNA Test 7,655,401
     
     
672 SCA2 Expansion Analysis 6,673,535, 6,844,431, 8,957,018
     
     
105 SCA3 (Machado-Joseph Disease) DNA Test 5,840,491
     
     
675 SCA5 DNA Sequencing Test 7,527,931
     
     
373 SCA6 DNA Test 7,329,487
     
     
677 SCA7 Expansion Analysis 6,280,938, 6,514,755, 7,118,893
     
     
384 SCA8 DNA Test 6,524,791, 7,741,458, 8,748,096, 8,247,173
     
     
537 SCN1A Deletion Test 7,723,027, 8,288,096
     
     
287 SensoriMotor Neuropathy Profile-Complete 6,599,756 6,951,763 , 5,807,705, 5,985,578, 6,020,140, 6,824,999
     
     
265 Sensory Neuropathy Profile 6,599,756, 6,951,763 5,807,705, 6,020,140, 5,985,578
     
     
263 Sensory Neuropathy Profile-xp 6,599,756, 6,951,763 , 5,807,705, 6,020,140, 5,985,578
     
     
594 SETX DNA Sequencing Test 7,704,691, 8,192,933
     
     
214 SMA Plus (Reflexive) 6,080,577, 7,033,752, 8,394,932, 8,962,269
     
     
211 SMN DNA Sequencing Test 6,080,577, 7,033,752, 8,394,932, 8,962,269
     
     
530 Spastin (SPG4) DNA Sequencing Test 6,924,126
     
     
444 Spinal Muscular Atrophy Carrier Test 6,080,577, 7,033,752, 8,394,932, 8,962,269
     
     
111D Spinal Muscular Atrophy Diagnostic Test 6,080,577, 7,033,752, 8,394,932, 8,962,269
     
     
210 Sulfatide Autoantibody Test 6,020,140, 5,985,578
     
     
804 TCF1 (MODY3) DNA Sequencing and Deletion Test 6,187,533
     
     
805 TCF2 (MODY5) DNA Sequencing and Deletion Test 6,187,533
     
     
712 TRPC6 DNA Sequencing Test 7,745,597
     
     
523 TSC Familial Mutation Evaluation 6,326,483, 6,232,452
     
     
508 TSC1 Deletion Analysis 6,548,258
     
     
521 TSC1 DNA Sequencing Test 6,326,483, 6,548,258
     
     
524 TSC2 DNA Deletion Test 6,232,452
     
     
522 TSC2 DNA Sequencing Test 6,232,452
     
     
858 von Hippel Lindau VHL 5,759,790