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List of Patents

 
Test Code Test Name U.S. Patent No.
     
815 ABCD1 (Adrenoleukodystrophy) DNA Sequencing Test 5,644,045
     
     
871 BBS1 (BBS) DNA Sequencing Test 6,962,788
     
     
872 BBS2 (BBS) DNA Sequencing Test 7,008,782
     
     
856 FGF23 (Hypophosphatemic Rickets) DNA Sequencing Test 7,223,563
     
     
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
     
     
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
     
     
178 ADmark® Alzheimer's Evaluation 6,027,896, 5,508,167, 5,593,846, 5,843,779, 5,861,257 6,010,913 6,232,437, 6,114,133
     
     
109 ADmark® ApoE Genotype Analysis & Interpretation (Symptomatic) 6,027,896, 5,508,167, 5,716,828
     
     
177 ADmark® Phospho-Tau/Total-Tau/Ab42 CSF Analysis & Interpretation (Symptomatic) 5,593,846, 5,843,779, 5,861,257, 6,010,913, 6,232,437, 6,114,133
     
     
166 ApoE Genotype Analysis 5,508,167, 6,027,896, & 5,716,828
     
     
493 Aprataxin DNA Sequencing Test 7,119,186, 7,824,860
     
     
352 Ataxia-Telangiectasia (ATM) DNA Deletion Analysis 5,955,279, 6,951,724
     
     
351 Ataxia-Telangiectasia (ATM) DNA Sequencing Analysis 5,955,279, 6,951,724
     
     
531 Atlastin (SPG3A) DNA Sequencing Test 7,649,088, 7,108,975, 7,582,425
     
     
812 Autoimmune Polyglandular Syndrome (AIRE) Evaluation 7,217,806
     
     
697 Autosomal Dominant Ataxia Evaluation 5,741,645, 5,834,183, 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, and 7,655,401
     
     
653 Autosomal Dominant Hereditary Spastic Paraplegia Evaluation 6,924,126, 7,108,975, 7,582,425, 7,811,762
     
     
693 Autosomal Recessive Ataxia Evaluation 7,824,860
     
     
887 Bardet-Biedl Syndrome Evaluation 7,008,782, 6,962,788
     
     
825 CASR DNA Sequencing Test 5,688,938
     
     
837 CEL (MODY8) Mutation Analysis 5,616,483, 5,827,683
     
     
277 Co-GM1 Quattro™ 5,989,829, 5,985,578, 6,077,681, 6,824,999
     
     
861 COL1A1 (OI) DNA Sequencing Test 6,265,157
     
     
696 Complete Ataxia Evaluation 5,741,645, 5,834,183, 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, and 7,824,860
     
     
353 Complete Ataxia-Telangiectasia (ATM) Evaluation 5,955,279, 6,951,724
     
     
286 Complete Dejerine-Sottas Neuropathy Evaluation 5,876,927 5,723,593, 7,273,698, 7,537,899
     
     
182 Complete DMD Evaluation - Females 5,621,091
     
     
181 Complete DMD Evaluation - Males 5,621,091
     
     
655 Complete Hereditary Spastic Paraplegia Evaluation 6,924,126, 7,108,975, 7,582,425, 7,811,762
     
     
243 Complete HNPP Evaluation 5,645,993, 5,780,223
     
     
147 Complete Myotonia Evaluation 5,955,265, 5,977,333, 6,902,896
     
     
126 Complete Myotonic Dystrophy Evaluation 5,955,265, 5,977,333
     
     
761 Complete PKD Evaluation 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
     
     
153 Complete Rett Syndrome Evaluation 6,709,817, 7,670,773
     
     
573 Complete SCN1A Evaluation 7,078,515
     
     
215 Complete SMA Evaluation (Reflexive) 6,080,577, 7,033,752
     
     
556 Complete Tuberous Sclerosis Evaluation 6,326,483, 6,232,452, 6,207,374, 6,548,258
     
     
819 Congenital Hyperinsulinism Evaluation 6,054,313
     
     
245 Congenital Hypomyelination Evaluation 5,876,927, 5,723,593
     
     
329 Connexin Related Deafness Evaluation 5,998,147, 6,485,908, 7,258,975
     
     
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
     
     
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
     
     
100 Dystrophin Test 5,541,074, 5,621,091
     
     
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
     
     
640 Early Onset Obesity (MC4R) DNA Sequencing Test 5,703,220, 6,117,975, 5,622,860, 5,869,257
     
     
884 Early-Onset Obesity Evaluation 5,703,220, 6,117,975, 5,622,860, 5,869,257
     
     
881 Endocrine Hypertension (HSD11B2) Evaluation 5,883,240
     
     
296 Entrapment Neuropathy Evaluation 5,645,993, 5,780,223
     
     
410 EPM1 DNA Test 6,432,635
     
     
187 Familial Hemiplegic Migraine Type I (CACNA1A) DNA Test 5,714,319
     
     
829 Familial Hypocalciuric Hypercalcemia (CASR) DNA Sequencing Test 5,688,938
     
     
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
     
     
261 GALOP™ Autoantibody Test 6,121,004
     
     
803 GCK (MODY2) DNA Sequencing and DeletionTest 5,541,060
     
     
842 GCK (NDM) DNA Sequencing Test 5,541,060
     
     
190 Hemiplegic Migraine Evaluation 5,714,319
     
     
770 Hereditary Interstitial Kidney Disease Assay 7,781,164
     
     
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
     
     
834 IPF1 (MODY4) DNA Sequencing Test 6,274,310
     
     
841 IPF1 (NDM) DNA Sequencing Test 6,274,310
     
     
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
     
     
821 LRP5 Idiopathic Osteoporosis (IOP) DNA Sequencing Test 6,545,137, 6,555,654
     
     
543 LRRK2 DNA Test 7,544,786
     
     
145 MAG 'Dual Antigen'® Autoantibody Test 6,599,756, 6,951,763
     
     
506 Male Muscular Dystrophy Reflexive Profile 5,621,091
     
     
817 Male Precocious Puberty (LHCGR) DNA Sequencing Test 6,635,445
     
     
223 MFN2 DNA Sequencing Test 7,727,717
     
     
885 Monogenic Diabetes (MODY) Evaluation 5,541,060, 5,616,483, 5,827,683, 6,187,533, 6,274,310
     
     
346 Motor Neuropathy Profile - Complete 6,599,756 6,951,763 , 6,121,004, 5,989,829, 5,807,705, 5,985,578, 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, 5,723,593
     
     
438 NeoCerebellar Degeneration Paraneoplastic Profile with Recombx 7,329,499, 5,925,526, 6,193,948, 5,614,371, 5,807,705, 5,668,013, 6,387,639, 7,026,450
     
     
467 NeoComplete Paraneoplastic Profile with Recombx 7,329,499, 5,925,526, 5,786,451, 5,614,371, 5,807,705, 5,668,013, 6,387,639 7,026,450
     
     
447 NeoEncephalitis Paraneoplastic Profile with Recombx 7,329,499, 6,193,948, 5,807,705, 6,387,639, 7,026,450
     
     
882 Neonatal Diabetes Mellitus Evaluation 5,541,060, 6,274,310, 6,054,313
     
     
360 NeoSeM® Basic Paraneoplastic Profile 5,925,526, 6,193,948, 5,807,705, 5,668,013
     
     
436 NeoSensory Neuropathy Paraneoplastic Profile with Recombx™ 7,329,499, 6,193,948, 5,807,705
     
     
532 NIPA1 (SPG6) DNA Sequencing Test 7,332,282
     
     
846 Noonan Syndrome (PTPN11) DNA Sequencing Test 7,335,469
     
     
421 Notch3 DNA Sequencing Test 6,995,257, 6,537,775, 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
     
     
860 Osteogenesis Imperfecta Evaluation 6,265,157
     
     
103 Partial DMD - del/dup only - Females 5,621,091
     
     
101 Partial DMD - del/dup only - Males 5,621,091
     
     
183 Partial DMD - Sequencing only 5,621,091
     
     
239 Periaxin DNA Sequencing Test 7,273,698, 7,537,899
     
     
889 Pheochromocytoma Evaluation 6,312,890, 5,654,138
     
     
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
     
     
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
     
     
247 PMP22 DNA Sequencing Test 5,599,920, 5,780,223
     
     
131 PMP22 Duplication/Deletion DNA Test 5,599,920, 5,645,993, 5,780,223
     
     
816 Primary Adrenal Insufficiency Evaluation 5,644,045, 7,217,806
     
     
639 Primary Dystonia Evaluation 6,387,616, 6,921,814
     
     
118 Recombx™ CAR (Anti-Recoverin) Autoantibody Test 5,786,451
     
     
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 5,603,934, 6,193,948, 5,807,705
     
     
115 Recombx™ Ri Autoantibody Test 5,614,371
     
     
125 Recombx™ Yo Autoantibody Test 5,925,526, 5,668,013
     
     
529 REEP1 (SPG31) DNA Sequencing Test 7,811,762
     
     
142 Rett Syndrome (MECP2) DNA Sequencing Test 6,709,817, 7,670,773
     
     
148 Rett Syndrome (MECP2) Duplication/Deletion Analysis 6,709,817, 7,670,773
     
     
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
     
     
593 SCA14 DNA Test 7,655,401
     
     
672 SCA2 Expansion Analysis 6,673,535, 6,844,431
     
     
105 SCA3 (Machado-Joseph Disease) DNA Test 5,840,491
     
     
675 SCA5 DNA Sequencing Test 7,527,931
     
     
373 SCA6 DNA Test 5,853,995, 6,303,307, 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
     
     
537 SCN1A Deletion Test 7,723,027
     
     
287 SensoriMotor Neuropathy Profile-Complete 6,599,756 6,951,763 , 6,121,004, 5,989,829, 5,807,705, 5,985,578, 6,020,140 6,077,681, 6,824,999
     
     
265 Sensory Neuropathy Profile 6,599,756, 6,193,948, 5,807,705, 6,020,140
     
     
263 Sensory Neuropathy Profile-xp 6,599,756, 6,951,763 , 6,193,948, 6,121,004, 5,807,705, 6,020,140
     
     
594 SETX DNA Sequencing Test 7,704,691
     
     
214 SMA Plus (Reflexive) 6,080,577, 7,033,752
     
     
211 SMN DNA Sequencing Test 6,080,577, 7,033,752
     
     
530 Spastin (SPG4) DNA Sequencing Test 6,924,126
     
     
444 Spinal Muscular Atrophy Carrier Test 6,080,577, 7,033,752
     
     
111D Spinal Muscular Atrophy Diagnostic Test 6,080,577, 7,033,752
     
     
210 Sulfatide Autoantibody Test 6,020,140
     
     
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, 6,548,258, 6,232,452, 6,207,374
     
     
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, 6,207,374
     
     
522 TSC2 DNA Sequencing Test 6,232,452, 6,207,374
     
     
858 Von Hippel-Lindau Syndrome (VHL) Evaluation 6,312,890, 5,654,138
     
     
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