|
Test Catalog
List of all Tests
|
 |
105k Chromosomal Microarray Analysis (CMA), 709 |
|
|
44k Chromosomal Microarray Analysis (CMA), 708 |
|
|
AChR/MuSK Reflex Antibody Test, 471 |
|
|
ADmark® APP DNA Sequencing/Duplication Test, 168 |
|
|
ADmark® Early Onset Alzheimer's Evaluation, 179 |
|
|
ADmark® PS-1 DNA Sequencing Test, 167 |
|
|
ADmark® PS-2 DNA Sequencing Test, 169 |
|
|
ADmark® Alzheimer's Evaluation, 178 |
|
|
ADmark® ApoE Genotype Analysis & Interpretation (Symptomatic), 109 |
|
|
ADmark® Phospho-Tau/Total-Tau/Ab42 CSF Analysis & Interpretation (Symptomatic), 177 |
|
|
ADNFLE Evaluation, 547 |
|
|
Amyloidosis Evaluation (TTR), 235 |
|
|
Aprataxin DNA Sequencing Test , 493 |
|
|
ARX DNA Sequencing Test , 141 |
|
|
Atlastin (SPG3A) DNA Sequencing Test , 531 |
|
|
Autosomal Dominant Ataxia Evaluation, 680 |
|
|
BAbScreen™/NAbFeron® Antibody Test, 194 |
|
|
Botulinum Toxin Type A Antibody Test, 113 |
|
|
Calpain 3 DNA Sequencing Test, 563 |
|
|
Carpal Tunnel Syndrome Evaluation, 244 |
|
|
Caveolin 3 DNA Sequencing Test, 566 |
|
|
Chorea Differential Evaluation, 402 |
|
|
CHRNA4 DNA Sequencing Test, 546 |
|
|
Chromosome Analysis - High Resolution, 707 |
|
|
Chronic Demyelinative Neuropathy Profile, 347 |
|
|
CLCN1 DNA Sequencing Test, 128 |
|
|
Co-GM1 Quattro™, 277 |
|
|
Complete Ataxia Evaluation, 690 |
|
|
Complete CADASIL Evaluation, 421 |
|
|
Complete CMT Evaluation, 400 |
|
|
Complete Dejerine-Sottas Neuropathy Evaluation, 286 |
|
|
Complete DMD Evaluation - Females, 182 |
|
|
Complete DMD Evaluation - Males, 181 |
|
|
Complete Hereditary Spastic Paraplegia Evaluation, 628 |
|
|
Complete HNPP Evaluation, 243 |
|
|
Complete Myotonia Evaluation, 129 |
|
|
Complete Myotonic Dystrophy Evaluation, 126 |
|
|
Complete Parkinsonism Evaluation, 555 |
|
|
Complete Tuberous Sclerosis Evaluation, 525 |
|
|
Congenital Hypomyelination Evaluation, 245 |
|
|
Connexin 26 DNA Sequencing Test, 321 |
|
|
Connexin 30 DNA Test, 319 |
|
|
Connexin Related Deafness Evaluation, 329 |
|
|
Connexin32 DNA Sequencing Test, 133 |
|
|
Connexin32 Evaluation, 143 |
|
|
DM1 DNA Test, 108 |
|
|
DM2 DNA Test, 110 |
|
|
Dominant CMT Evaluation, 408 |
|
|
DRPLA DNA Test, 401 |
|
|
Dysferlin Blood Test, 561 |
|
|
Dysferlin DNA Sequencing Test, 571 |
|
|
Dystonia (DYT1) DNA Test, 626 |
|
|
Dystrophin Test, 100 |
|
|
Early-Onset Parkinsonism Evaluation, 550 |
|
|
EFHC1 (JME) DNA Sequencing Test, 417 |
|
|
EGR2 DNA Sequencing Test, 248 |
|
|
EMD Sequencing Test, 567 |
|
|
Emery-Dreifuss Muscular Dystrophy Evaluation, 569 |
|
|
Entrapment Neuropathy Evaluation, 296 |
|
|
EPM1 DNA Test, 410 |
|
|
EPM2A DNA Test , 411 |
|
|
EPM2B DNA Test , 412 |
|
|
Familial Amyotrophic Lateral Sclerosis (SOD1) DNA Test, 620 |
|
|
Familial DNA Sequence Evaluation, 185 |
|
|
Familial Hemiplegic Migraine Evaluation, 186 |
|
|
Familial Hemiplegic Migraine Type I DNA Test, 187 |
|
|
Familial Hemiplegic Migraine Type II DNA Test, 188 |
|
|
Febrile Seizures Evaluation, 548 |
|
|
FIG4 DNA Sequencing Test, 225 |
|
|
FKRP DNA Sequencing Test, 562 |
|
|
Fragile X DNA Test, 104 |
|
|
Friedreich Ataxia DNA Test, 119 |
|
|
FSHD DNA Test, 405 |
|
|
FXTAS DNA Test, 106 |
|
|
GABRG2 DNA Sequencing Test, 544 |
|
|
GALOP™ Antibody Test, 261 |
|
|
GD1a Antibody Test, 278 |
|
|
GDAP1 DNA Sequencing Test , 221 |
|
|
Glycogen Storage Myopathy 'A' Profile, 502 |
|
|
Glycogen Storage Myopathy 'B' Profile, 503 |
|
|
GQ1b Antibody Test, 160 |
|
|
Huntington's Disease DNA Test, 116 |
|
|
KCNQ2 DNA Sequencing Test, 545 |
|
|
Kennedy's Disease (SBMA) DNA Test, 117 |
|
|
KIAA0196 (SPG8) DNA Sequencing Test, 533 |
|
|
KSS/CPEO mtDNA Evaluation, 514 |
|
|
Lafora Disease Evaluation , 415 |
|
|
Lamin A/C DNA Sequencing Test, 565 |
|
|
LEMS Antibody Test, 475 |
|
|
LHON mtDNA Evaluation, 515 |
|
|
Limb Girdle Muscular Dystrophy Evaluation, 601 |
|
|
Lipid Storage Myopathy Profile, 504 |
|
|
LITAF/SIMPLE DNA Sequencing Test, 222 |
|
|
LRRK2 DNA Test, 543 |
|
|
MAG 'Dual Antigen'® Antibody Test, 145 |
|
|
Male Muscular Dystrophy Reflexive Profile, 506 |
|
|
MELAS mtDNA Evaluation, 517 |
|
|
MERRF mtDNA Evaluation, 518 |
|
|
MFN2 DNA Sequencing Test, 223 |
|
|
MIRAS-Specific POLG1 DNA Test, 383 |
|
|
Mitochondrial Enzyme Deficiency Myopathy Panel, 500 |
|
|
Mitochondrial Myopathy mtDNA Evaluation, 519 |
|
|
Motor Neuropathy Profile-Complete, 288 |
|
|
Motor Neuropathy Profile-Standard, 259 |
|
|
Multifocal Neuropathy Evaluation, 289 |
|
|
MuSK Antibody Test , 470 |
|
|
Myelin Protein Zero (MPZ) DNA Sequencing Test, 134 |
|
|
Myoclonus Epilepsy Evaluation, 418 |
|
|
Myoglobinuria Test Panel, 501 |
|
|
NAbFeron® (IFNΒ-1) Neutralizing Antibody Test, 112 |
|
|
NARP mtDNA Evaluation, 516 |
|
|
NeoCerebellar Degeneration Paraneoplastic Profile with Recombx™, 363 |
|
|
NeoComplete Paraneoplastic Profile with Recombx™, 369 |
|
|
NeoEncephalitis Paraneoplastic Profile with Recombx™, 359 |
|
|
NeoPLAST® Basic Paraneoplastic Profile, 365 |
|
|
NeoSeM® Basic Paraneoplastic Profile, 360 |
|
|
NeoSensory Neuropathy Paraneoplastic Profile with Recombx™, 478 |
|
|
Neurofibromatosis Type 2 DNA Test, 635 |
|
|
Neurofilament Light (NFL) DNA Sequencing Test, 249 |
|
|
NIPA1 (SPG6) DNA Sequencing Test , 532 |
|
|
Norrie Disease DNA Test, 630 |
|
|
OPMD DNA Test, 300 |
|
|
Optic Atrophy Evaluation (OPA1), 490 |
|
|
OtoDx™ Aminoglycoside Hypersensitivity Test, 327 |
|
|
Parkin DNA Test , 540 |
|
|
Partial CMT Evaluation - Demyelinating Only, 407 |
|
|
Partial CMT Evaluation - Recessive Only, 406 |
|
|
Partial CMT- Axonal Only, 393 |
|
|
Partial CMT- Axonal Only (Old), 392 |
|
|
Partial CMT- Recessive Only , 294 |
|
|
Partial DMD - del/dup only - Females, 103 |
|
|
Partial DMD - del/dup only - Males, 101 |
|
|
Partial DMD - Sequencing only, 183 |
|
|
Periaxin DNA Sequencing Test, 239 |
|
|
Peroxisomal Disorders Test, 600 |
|
|
PINK1 DNA Sequencing Test, 542 |
|
|
PMP22 DNA Sequencing Test, 247 |
|
|
PMP22 Duplication/Deletion DNA Test, 131 |
|
|
Recombx™ CAR (Anti-Recoverin) Antibody Test , 118 |
|
|
Recombx™ MaTa Antibody Test, 122 |
|
|
Recombx™ CV2 Antibody Test, 123 |
|
|
Recombx™ Hu Antibody Test, 120 |
|
|
Recombx™ Ri Antibody Test, 115 |
|
|
Recombx™ Yo Antibody Test, 125 |
|
|
Recombx™ Zic4 Antibody Test, 127 |
|
|
REEP1 (SPG31) DNA Sequencing Test, 529 |
|
|
Rett Syndrome (MECP2) DNA Sequencing Test , 142 |
|
|
SCA1 DNA Test, 371 |
|
|
SCA10 DNA Test, 387 |
|
|
SCA13 Select Exon DNA Test, 284 |
|
|
SCA14 DNA Test, 593 |
|
|
SCA17 DNA Test, 388 |
|
|
SCA2 DNA Test, 372 |
|
|
SCA3 (Machado-Joseph Disease) DNA Test, 105 |
|
|
SCA5 Select Exon DNA Test, 389 |
|
|
SCA6 DNA Test, 373 |
|
|
SCA7 DNA Test, 374 |
|
|
SCA8 DNA Test, 384 |
|
|
SCN1A Deletion Test, 537 |
|
|
SCN1A DNA Sequencing Test , 535 |
|
|
SCN1B DNA Sequencing Test, 538 |
|
|
SensoriMotor Neuropathy Profile, 264 |
|
|
SensoriMotor Neuropathy Profile-Complete, 287 |
|
|
SensoriMotor Neuropathy Profile-xp, 262 |
|
|
Sensory Neuropathy Profile, 265 |
|
|
Sensory Neuropathy Profile-xp, 263 |
|
|
SETX DNA Sequencing Test, 594 |
|
|
SGCA, B, D, G DNA Sequencing Test, 568 |
|
|
SH3TC2 DNA Sequencing Test, 224 |
|
|
SIL1 (Marinesco-Sjogren Syndrome) DNA Sequencing Test, 282 |
|
|
Small Fiber Painful Axonal Neuropathy Profile, 234 |
|
|
Spastin (SPG4) Deletion Test, 534 |
|
|
Spastin (SPG4) DNA Sequencing Test , 530 |
|
|
Spinal Muscular Atrophy Test, 111 |
|
|
Sulfatide Antibody Test, 210 |
|
|
THROMBOGENE V® Test, 090 |
|
|
THROMBX® Evaluation Profile I , 098 |
|
|
THROMBX® Evaluation Profile II, 099 |
|
|
TSC Familial Mutation Evaluation, 523 |
|
|
TSC1 DNA Sequencing Test, 521 |
|
|
TSC2 DNA Deletion Test, 524 |
|
|
TSC2 DNA Sequencing Test, 522 |
|
|
TTPA (Ataxia with Vitamin E Deficiency) DNA Sequencing Test, 283 |
|
|
Tysabri® Antibody Test, 197 |
|
|
VGKC Antibody Test, 485 |
|
|
ABCD1 (Adrenoleukodystrophy) DNA Sequencing Test, 815 |
|
|
APOB (Hypercholesterolemia) Mutation Analysis, 893 |
|
|
BBS1 (BBS) DNA Sequencing Test, 871 |
|
|
BBS2 (BBS) DNA Sequencing Test, 872 |
|
|
FGF23 (Hypophosphatemic Rickets) DNA Sequencing Test, 856 |
|
|
LDLR (Hypercholesterolemia) DNA Sequencing Test, 894 |
|
|
NR0B1 (Adrenal Hypoplasia Congenita) DNA Sequencing Test, 814 |
|
|
PHEX (Hypophosphatemic Rickets) DNA Sequencing Test, 855 |
|
|
ABCC8 (CH) DNA Sequencing Test, 827 |
|
|
AQP2 (Nephrogenic Diabetes Insipidus) DNA Sequencing Test, 852 |
|
|
Autoimmune Polyglandular Syndrome (AIRE) Evaluation, 812 |
|
|
AVPR2 (Nephrogenic Diabetes Insipidus) DNA Sequencing Test, 851 |
|
|
Bardet-Biedl Syndrome Evaluation, 887 |
|
|
BBS10 (Bardet-Biedl Syndrome) DNA Sequencing Test, 886 |
|
|
CEL (MODY8) Mutation Analysis, 837 |
|
|
COL1A1 (OI) DNA Sequencing Test, 861 |
|
|
COL1A2 (OI) DNA Sequencing Test, 862 |
|
|
Combined Pituitary Hormone Deficiency Evaluation, 865 |
|
|
Congenital Adrenal Hyperplasia (CAH) Evaluation, 879 |
|
|
Congenital Hyperinsulinism Evaluation, 819 |
|
|
CYP11B1 (CAH) DNA Sequencing Test, 875 |
|
|
CYP17A1 DNA Sequencing Test, 877 |
|
|
CYP21A2 (CAH) Evaluation, 880 |
|
|
Early Onset Obesity (MC4R) Evaluation, 640 |
|
|
Endocrine Hypertension (HSD11B2) Evaluation, 881 |
|
|
Familial Hypocalciuric Hypercalcemia (CASR) Evaluation, 829 |
|
|
GCK (CH) DNA Sequencing Test, 823 |
|
|
GCK (MODY2) DNA Sequencing Test, 832 |
|
|
GCK (NDM) DNA Sequencing Test, 842 |
|
|
GLUD1 (CH) DNA Sequencing Test, 822 |
|
|
HNF4A (MODY1) DNA Sequencing Test, 831 |
|
|
HSD3B2 DNA Sequencing Test, 878 |
|
|
Hypercholesterolemia Evaluation, 895 |
|
|
Hypophosphatemic Rickets Evaluation, 857 |
|
|
IPF1 (MODY4) DNA Sequencing Test, 834 |
|
|
IPF1 (NDM) DNA Sequencing Test, 841 |
|
|
KCNJ11 (CH) DNA Sequencing Test, 826 |
|
|
KCNJ11 (NDM) DNA Sequencing Test, 843 |
|
|
Lipoid CAH (StAR) Evaluation, 874 |
|
|
LRP5 (OPPG) DNA Sequencing Test, 811 |
|
|
LRP5 Idiopathic Osteoporosis (IOP) DNA Sequencing Test, 821 |
|
|
Male Precocious Puberty (LHCGR) Evaluation, 817 |
|
|
MEN1 (MEN1) Evaluation, 818 |
|
|
MEN2 (RET) Evaluation, 813 |
|
|
Monogenic Diabetes (MODY) Evaluation, 849 |
|
|
Neonatal Diabetes Mellitus Evaluation, 844 |
|
|
Nephrogenic Diabetes Insipidus Evaluation, 854 |
|
|
Noonan Syndrome (PTPN11) Evaluation, 846 |
|
|
Osteogenesis Imperfecta Evaluation, 860 |
|
|
Pheochromocytoma Evaluation, 859 |
|
|
POU1F1 (CPHD) DNA Sequencing Test, 864 |
|
|
Primary Adrenal Insufficiency Evaluation, 816 |
|
|
PROP1 (CPHD) DNA Sequencing Test, 863 |
|
|
TCF1 (MODY3) DNA Sequencing Test, 833 |
|
|
TCF2 (MODY5) DNA Sequencing Test, 836 |
|
|
Von Hippel-Lindau Syndrome (VHL) Evaluation, 858 |
|
|
ACTN4 DNA Sequencing Test, 711 |
|
|
Alport Syndrome Evaluation, 755 |
|
|
Autosomal Dominant Hypocalcemia (ADH) Evaluation, 825 |
|
|
COL4A5 Deletion Analysis, 756 |
|
|
Hereditary Interstitial Kidney Disease Assay, 770 |
|
|
Inherited Focal and Segmental Glomerulosclerosis (FSGS) Evaluation, 715 |
|
|
LAMB2 DNA Sequencing Test, 714 |
|
|
Nephrotic Syndrome Evaluation, 721 |
|
|
NPH1 (FJN) Molecular Analysis, 750 |
|
|
NPHS1 (Nephrin) Sequencing Analysis, 730 |
|
|
NPHS2 (Podocin) Sequencing Analysis, 710 |
|
|
PKDx® Familial Mutation Evaluation, 728 |
|
|
PKDx® Sequencing Analysis, 725 |
|
|
TRPC6 DNA Sequencing Test, 712 |
|
|
WT1 DNA Sequencing Test, 713 |
|
|
CHRNB2 DNA Sequencing Test, 547b |
|
|
