|
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 |
| |
|
|
 |
| |
|
|
| 827 |
ABCC8 (CH) DNA Sequencing Test |
6,054,313 |
| |
|
|
 |
| |
|
|
| 483 |
AChR/MuSK Reflexive Antibody Test |
7,267,820 |
| |
|
|
 |
| |
|
|
| 179 |
ADmark® Early Onset Alzheimer's Evaluation |
6,194,153, 5,840,540 |
| |
|
|
 |
| |
|
|
| 167 |
ADmark® PS-1 DNA Sequencing Test |
6,194,153 |
| |
|
|
 |
| |
|
|
| 169 |
ADmark® PS-2 DNA Sequencing Test |
5,840,540 |
| |
|
|
 |
| |
|
|
| 178 |
ADmark® Alzheimer's Evaluation |
4,666,829, 5,593,846, 5,508,167, 5,861,257, 6,027,896, 5,843,779, 6,114,133, & 6,121,003 |
| |
|
|
 |
| |
|
|
| 109 |
ADmark® ApoE Genotype Analysis & Interpretation (Symptomatic) |
5,508,167, 6,027,896, & 5,716,828 |
| |
|
|
 |
| |
|
|
| 177 |
ADmark® Phospho-Tau/Total-Tau/Ab42 CSF Analysis & Interpretation (Symptomatic) |
4,666,829, 5,593,846, 5,861,257, 5,843,779, 6,114,133, & 6,121,003 |
| |
|
|
 |
| |
|
|
| 166 |
ApoE Genotype Analysis |
5,508,167, 6,027,896, & 5,716,828 |
| |
|
|
 |
| |
|
|
| 493 |
Aprataxin DNA Sequencing Test |
7,119,186 |
| |
|
|
 |
| |
|
|
| 531 |
Atlastin (SPG3A) DNA Sequencing Test |
7,108,975, 7,582,425, 7,649,088 |
| |
|
|
 |
| |
|
|
| 743 |
Autism Spectrum Disorders Evaluation |
Pending |
| |
|
|
 |
| |
|
|
| 680 |
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, and 7,585,629 |
| |
|
|
 |
| |
|
|
| 694 |
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 |
| |
|
|
 |
| |
|
|
| 651 |
Autosomal Dominant HSP Evaluation |
7,108,975, 6,924,126, 7,582,425 |
| |
|
|
 |
| |
|
|
| 825 |
Autosomal Dominant Hypocalcemia (ADH) Evaluation |
5,688,938 |
| |
|
|
 |
| |
|
|
| 652 |
Autosomal Recessive HSP Evaluation |
Pending |
| |
|
|
 |
| |
|
|
| 887 |
Bardet-Biedl Syndrome Evaluation |
6,962,788; 7,008,782 |
| |
|
|
 |
| |
|
|
| 244 |
Carpal Tunnel Syndrome Evaluation |
5,306,616, 5,780,223, & 5,645,993 |
| |
|
|
 |
| |
|
|
| 837 |
CEL (MODY8) Mutation Analysis |
5,616,483; 5,827,683 |
| |
|
|
 |
| |
|
|
| 347 |
Chronic Demyelinative Neuropathy Profile |
5,306,616, 5,691,144, 5,645,993, 5,780,223, 6,001,576 & 6,599,756 |
| |
|
|
 |
| |
|
|
| 741 |
CNTNAP2 DNA Sequencing Test |
Pending |
| |
|
|
 |
| |
|
|
| 277 |
Co-GM1 Quattro™ |
5,989,829, 5,985,578, 6,824,999 |
| |
|
|
 |
| |
|
|
| 861 |
COL1A1 (OI) DNA Sequencing Test |
6,265,157 |
| |
|
|
 |
| |
|
|
| 695 |
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, and 7,655,401 |
| |
|
|
 |
| |
|
|
| 421 |
Complete CADASIL Evaluation |
6,537,775, 6,995,257, 7,138,234 |
| |
|
|
 |
| |
|
|
| 404 |
Complete CMT Evaluation |
5,306,616, 5,691,144, 5,780,223, 5,645,993, 6,001,576, 5,876,927, 7,273,698 |
| |
|
|
 |
| |
|
|
| 286 |
Complete Dejerine-Sottas Neuropathy Evaluation |
5,876,927, 7,273,698 |
| |
|
|
 |
| |
|
|
| 182 |
Complete DMD Evaluation - Females |
5,621,091 |
| |
|
|
 |
| |
|
|
| 181 |
Complete DMD Evaluation - Males |
5,621,091 |
| |
|
|
 |
| |
|
|
| 650 |
Complete Hereditary Spastic Paraplegia Evaluation |
7,108,975, 6,924,126, 7,582,425 |
| |
|
|
 |
| |
|
|
| 243 |
Complete HNPP Evaluation |
5,306,616, 5,780,223, & 5,645,993 |
| |
|
|
 |
| |
|
|
| 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 |
5,654,170, 6,031,088, 6,228,591, 6,485,960, 6,656,681, 6,916,619, 7,273,701, 7,294,465, 7,521,190, 7,553,644 |
| |
|
|
 |
| |
|
|
| 153 |
Complete Rett Syndrome Evaluation |
6,709,817 and 7,670,773 |
| |
|
|
 |
| |
|
|
| 573 |
Complete SCN1A Evaluation |
7,078, 515 |
| |
|
|
 |
| |
|
|
| 556 |
Complete Tuberous Sclerosis Evaluation |
6,207,374, 6,232,452, 6,326,483 and 6,548,258 |
| |
|
|
 |
| |
|
|
| 819 |
Congenital Hyperinsulinism Evaluation |
6,054,313 |
| |
|
|
 |
| |
|
|
| 245 |
Congenital Hypomyelination Evaluation |
5,876,927 |
| |
|
|
 |
| |
|
|
| 321 |
Connexin 26 DNA Sequencing Test |
5,998,147, 6,485,908, 7,258,975 |
| |
|
|
 |
| |
|
|
| 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 |
| |
|
|
 |
| |
|
|
| 108 |
DM1 DNA Test |
5,955,265 & 5,977,333 |
| |
|
|
 |
| |
|
|
| 110 |
DM2 DNA Test |
6,902,896 |
| |
|
|
 |
| |
|
|
| 414 |
Dominant CMT Evaluation |
5,306,616, 5,691,144, 5,780,223, 5,645,993, 6,001,576, & 5,876,927 |
| |
|
|
 |
| |
|
|
| 561 |
Dysferlin Blood Test |
7,172,858 |
| |
|
|
 |
| |
|
|
| 626 |
Dystonia (DYT1) DNA Test |
6,387,616 |
| |
|
|
 |
| |
|
|
| 100 |
Dystrophin Test |
5,541,074, 5,621,091, 5,239,060 |
| |
|
|
 |
| |
|
|
| 207 |
Early Onset Myotonia Evaluation |
5,955,265; 5,977,333 |
| |
|
|
 |
| |
|
|
| 640 |
Early Onset Obesity (MC4R) Evaluation |
5,622,860, 5,703,220 |
| |
|
|
 |
| |
|
|
| 881 |
Endocrine Hypertension (HSD11B2) Evaluation |
5,883,240 |
| |
|
|
 |
| |
|
|
| 296 |
Entrapment Neuropathy Evaluation |
5,306,616, 5,780,223, & 5,645,993 |
| |
|
|
 |
| |
|
|
| 410 |
EPM1 DNA Test |
6,432,635 |
| |
|
|
 |
| |
|
|
| 411 |
EPM2A DNA Test |
6,825,328 |
| |
|
|
 |
| |
|
|
| 187 |
Familial Hemiplegic Migraine Type I DNA Test |
5,714,319 |
| |
|
|
 |
| |
|
|
| 829 |
Familial Hypocalciuric Hypercalcemia (CASR) Evaluation |
5,688,938 |
| |
|
|
 |
| |
|
|
| 104 |
Fragile X DNA Test |
5,658,764 |
| |
|
|
 |
| |
|
|
| 119 |
Friedreich Ataxia DNA Test |
6,150,091 |
| |
|
|
 |
| |
|
|
| 261 |
GALOP™ Antibody Test |
6,121,004 |
| |
|
|
 |
| |
|
|
| 803 |
GCK (MODY2) DNA Sequencing and DeletionTest |
5,541,060 |
| |
|
|
 |
| |
|
|
| 190 |
Hemiplegic Migraine Evaluation |
5,714,319 |
| |
|
|
 |
| |
|
|
| 802 |
HNF4A (MODY1) DNA Sequencing and Deletion Test |
6,187,533 |
| |
|
|
 |
| |
|
|
| 715 |
Inherited Focal and Segmental Glomerulosclerosis (FSGS) Evaluation |
6,924,110 and 7,388,086 |
| |
|
|
 |
| |
|
|
| 834 |
IPF1 (MODY4) DNA Sequencing Test |
6,274,310 |
| |
|
|
 |
| |
|
|
| 841 |
IPF1 (NDM) DNA Sequencing Test |
6,274,310 |
| |
|
|
 |
| |
|
|
| 545 |
KCNQ2 DNA Sequencing Test |
6,413,719, 7,214,483 |
| |
|
|
 |
| |
|
|
| 415 |
Lafora Disease Evaluation |
6,825,328 |
| |
|
|
 |
| |
|
|
| 222 |
LITAF/SIMPLE DNA Sequencing Test |
7,449,291 |
| |
|
|
 |
| |
|
|
| 811 |
LRP5 (OPPG) DNA Sequencing Test |
6,555,654 & 6,545,137
|
| |
|
|
 |
| |
|
|
| 821 |
LRP5 Idiopathic Osteoporosis (IOP) DNA Sequencing Test |
6,555,654, 6,545,137 |
| |
|
|
 |
| |
|
|
| 145 |
MAG 'Dual Antigen'® Antibody Test |
6,599,756, 6,951,763 |
| |
|
|
 |
| |
|
|
| 817 |
Male Precocious Puberty (LHCGR) Evaluation |
6,635,445 |
| |
|
|
 |
| |
|
|
| 850 |
Monogenic Diabetes (MODY) Evaluation |
6,187,533, 5,541,060, 6,274,310 |
| |
|
|
 |
| |
|
|
| 288 |
Motor Neuropathy Profile-Complete |
5,443,952, 5,603,934, 5,807,705, 5,989,829, 5,985,578, 6,020,140, 6,121,004 & 6,599,756 |
| |
|
|
 |
| |
|
|
| 259 |
Motor Neuropathy Profile-Standard |
5,989,829, 5,985,578, 6,077,681 & 6,599,756 |
| |
|
|
 |
| |
|
|
| 289 |
Multifocal Neuropathy Evaluation |
5,989,829 & 5,985,578 |
| |
|
|
 |
| |
|
|
| 470 |
MuSK Antibody Test |
7,267,820 |
| |
|
|
 |
| |
|
|
| 482 |
MuSK Quantitative Titers Antibody Test |
7,267,820 |
| |
|
|
 |
| |
|
|
| 134 |
Myelin Protein Zero (MPZ) DNA Sequencing Test |
5,876,927 |
| |
|
|
 |
| |
|
|
| 418 |
Myoclonus Epilepsy Evaluation |
6,432,635, 6,825,328 |
| |
|
|
 |
| |
|
|
| 431 |
NeoCerebellar Degeneration Paraneoplastic Profile with Recombx™ |
5,603,934, 5,807,705, 5,668,013, 5,925,526, 6,193,948, 6,387,639, 7,026,450, and 7,329,499 |
| |
|
|
 |
| |
|
|
| 429 |
NeoComplete Paraneoplastic Profile with Recombx™ |
5,603,934, 5,614,371, 5,668,013, 5,786,451, 5,807,705 5,925,526, 6,387,639, and 7,329,499 |
| |
|
|
 |
| |
|
|
| 432 |
NeoEncephalitis Paraneoplastic Profile with Recombx™ |
5,603,934, 5,807,705, 6,193,948, 6,387,639, 7,026,450, and 7,329,499 |
| |
|
|
 |
| |
|
|
| 882 |
Neonatal Diabetes Mellitus Evaluation |
6,274,310 |
| |
|
|
 |
| |
|
|
| 365 |
NeoPLAST® Basic Paraneoplastic Profile |
5,603,934, 5,614,371, 5,668,013, 5,786,451, 5,807,705 & 5,925,526 |
| |
|
|
 |
| |
|
|
| 360 |
NeoSeM® Basic Paraneoplastic Profile |
5,603,934, 5,807,705, 5,668,013, 5,925,526, & 6,193,948 |
| |
|
|
 |
| |
|
|
| 436 |
NeoSensory Neuropathy Paraneoplastic Profile with Recombx™ |
5,603,934, 5,807,705, 6,193,948 and 7,329,499 |
| |
|
|
 |
| |
|
|
| 721 |
Nephrotic Syndrome Evaluation |
6,207,811, 6,924,110, 7,105,291 and 7,388,086 |
| |
|
|
 |
| |
|
|
| 730 |
NPHS1 (Nephrin) Sequencing Analysis |
6,207,811 and 7,105,291 |
| |
|
|
 |
| |
|
|
| 710 |
NPHS2 (Podocin) Sequencing Analysis |
6,924,110 and 7,388,086 |
| |
|
|
 |
| |
|
|
| 300 |
OPMD DNA Test |
6,828,430 |
| |
|
|
 |
| |
|
|
| 860 |
Osteogenesis Imperfecta Evaluation |
6,265,157 |
| |
|
|
 |
| |
|
|
| 327 |
OtoDx™ Aminoglycoside Hypersensitivity Test |
5,506,101 |
| |
|
|
 |
| |
|
|
| 407 |
Partial CMT Evaluation - Demyelinating Only |
5,306,616, 5,691,144, 5,780,223, 5,645,993, & 6,001,576 |
| |
|
|
 |
| |
|
|
| 406 |
Partial CMT Evaluation - Recessive Only |
7,273,698 |
| |
|
|
 |
| |
|
|
| 409 |
Partial CMT Evaluation - Recessive Only |
7,273,698 |
| |
|
|
 |
| |
|
|
| 413 |
Partial CMT- Axonal Only |
5,645,993, 5,691,144, 6,001,576, & 5,876,927 |
| |
|
|
 |
| |
|
|
| 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 |
| |
|
|
 |
| |
|
|
| 728 |
PKDx® Familial Mutation Evaluation |
5,654,170, 6,031,088, 6,228,591, 6,485,960, 6,656,681, 6,916,619, 7,273,701, 7,294,465 |
| |
|
|
 |
| |
|
|
| 725 |
PKDx® Sequencing Analysis |
5,654,170, 6,031,088, 6,228,591, 6,485,960, 6,656,681, 6,916,619, 7,273,701, 7,294,465, 7,521,190, 7,553,644 |
| |
|
|
 |
| |
|
|
| 131 |
PMP22 Duplication/Deletion DNA Test |
5,306,616, 5,780,223, 5,645,993, & 5,599,920 |
| |
|
|
 |
| |
|
|
| 118 |
Recombx™ CAR (Anti-Recoverin) Antibody Test |
5,786,451 |
| |
|
|
 |
| |
|
|
| 122 |
Recombx™ MaTa Antibody Test |
6,387,639; 7,026,450 |
| |
|
|
 |
| |
|
|
| 123 |
Recombx™ CV2 Antibody Test |
7,183,400 and 7,329,499 |
| |
|
|
 |
| |
|
|
| 120 |
Recombx™ Hu Antibody Test |
5,603,934 & 5,807,705 |
| |
|
|
 |
| |
|
|
| 115 |
Recombx™ Ri Antibody Test |
5,614,371 |
| |
|
|
 |
| |
|
|
| 125 |
Recombx™ Yo Antibody Test |
5,668,013 & 5,925,526 |
| |
|
|
 |
| |
|
|
| 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 |
5,741,645, & 5,834,183 |
| |
|
|
 |
| |
|
|
| 284 |
SCA13 Select Exon DNA Test |
7,585,629 |
| |
|
|
 |
| |
|
|
| 593 |
SCA14 DNA Test |
7,655,401 |
| |
|
|
 |
| |
|
|
| 372 |
SCA2 DNA Test |
6,673,535, 6,844,431 |
| |
|
|
 |
| |
|
|
| 105 |
SCA3 (Machado-Joseph Disease) DNA Test |
5,840,491 |
| |
|
|
 |
| |
|
|
| 389 |
SCA5 Select Exon DNA Test |
7,527,931 |
| |
|
|
 |
| |
|
|
| 373 |
SCA6 DNA Test |
5,853,995, 6,303,307, 7,329,487 |
| |
|
|
 |
| |
|
|
| 374 |
SCA7 DNA Test |
6,280,938, 6,514,755, 7,118,893 |
| |
|
|
 |
| |
|
|
| 384 |
SCA8 DNA Test |
6,524,791 |
| |
|
|
 |
| |
|
|
| 535 |
SCN1A DNA Sequencing Test |
7,078, 515 |
| |
|
|
 |
| |
|
|
| 264 |
SensoriMotor Neuropathy Profile |
5,443,952, 6,020,140, 5,603,934, 5,807,705 & 6,599,756 |
| |
|
|
 |
| |
|
|
| 287 |
SensoriMotor Neuropathy Profile-Complete |
5,443,952, 5,603,934, 5,807,705, 5,989,829, 5,985,578, 6,020,140, 6,121,004 & 6,599,756 |
| |
|
|
 |
| |
|
|
| 265 |
Sensory Neuropathy Profile |
5,603,934, 5,807,705, 5,443,952, 6,020,140, 6,193,948 & 6,599,756 |
| |
|
|
 |
| |
|
|
| 263 |
Sensory Neuropathy Profile-xp |
5,603,934, 5,807,705, 5,443,952, 6,020,140, 6,121,004, 6,193,948 & 6,599,756 |
| |
|
|
 |
| |
|
|
| 742 |
SHANK3 DNA Sequencing Test |
Pending |
| |
|
|
 |
| |
|
|
| 448 |
SMA Carrier Plus (Reflexive) |
6,080,577; 7,033,752 |
| |
|
|
 |
| |
|
|
| 234 |
Small Fiber Painful Axonal Neuropathy Profile |
5,443,952, 5,807,705, 5,603,934 & 6,020,140 |
| |
|
|
 |
| |
|
|
| 530 |
Spastin (SPG4) DNA Sequencing Test |
6,924,126 |
| |
|
|
 |
| |
|
|
| 633 |
Spatacsin (SPG11) DNA Sequencing Test |
Pending |
| |
|
|
 |
| |
|
|
| 111C |
Spinal Muscular Atrophy Carrier Test |
6,080,577; 7,033,752 |
| |
|
|
 |
| |
|
|
| 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 Antibody Test |
5,443,952, 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 |
| |
|
|
 |
| |
|
|
| 523 |
TSC Familial Mutation Evaluation |
6,207,374, 6,232,452 |
| |
|
|
 |
| |
|
|
| 521 |
TSC1 DNA Sequencing Test |
6,326,483 and 6,548,258 |
| |
|
|
 |
| |
|
|
| 524 |
TSC2 DNA Deletion Test |
6,207,374, 6,232,452 |
| |
|
|
 |
| |
|
|
| 522 |
TSC2 DNA Sequencing Test |
6,207,374, 6,232,452 |
| |
|
|
 |
| |
|
|
|