|
 |
105K WholeGenome Chromosomal Microarray Analysis, 703 |
|
 |
44K WholeGenome Chromosomal Microarray Analysis, 702 |
|
 |
AChR/MuSK Reflex Antibody Test, 471 |
|
 |
AChR/MuSK Reflexive Antibody Test, 483 |
|
 |
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 |
|
 |
Alexander Disease (GFAP) DNA Sequencing Test, 549 |
|
 |
Amphiphysin Antibody Test, 427 |
|
 |
Amyloidosis Evaluation (TTR), 235 |
|
 |
ANG DNA Sequencing test, 622 |
|
 |
ApoE Genotype Analysis, 166 |
|
 |
Aprataxin DNA Sequencing Test , 493 |
|
 |
ARX DNA Sequencing Test , 141 |
|
 |
Ataxia-Telangiectasia (ATM) DNA Duplication/Deletion Analysis, 352 |
|
 |
Ataxia-Telangiectasia (ATM) DNA Sequencing Analysis, 351 |
|
 |
Atlastin (SPG3A) DNA Sequencing Test , 531 |
|
 |
Autism Spectrum Disorders Evaluation, 743 |
|
 |
Autosomal Dominant Ataxia Evaluation, 680 |
|
 |
Autosomal Dominant Ataxia Evaluation, 694 |
|
 |
Autosomal Dominant HSP Evaluation, 651 |
|
 |
Autosomal Recessive Ataxia Evaluation, 693 |
|
 |
Autosomal Recessive HSP Evaluation, 652 |
|
 |
BAbScreen™/NAbFeron® Antibody Test, 194 |
|
 |
Botulinum Toxin Type A Antibody Test, 113 |
|
 |
BSCL2 DNA Sequencing Test, 631 |
|
 |
Calpain 3 DNA Sequencing Test, 563 |
|
 |
Carpal Tunnel Syndrome Evaluation, 244 |
|
 |
Caveolin 3 DNA Sequencing Test, 566 |
|
 |
CDKL5 DNA Sequencing test, 149 |
|
 |
Chorea Differential Evaluation, 402 |
|
 |
CHRNA4 DNA Sequencing Test, 546 |
|
 |
Chromosome Analysis - High Resolution, 707 |
|
 |
Chronic Demyelinative Neuropathy Profile, 347 |
|
 |
CLCN1 DNA Sequencing Test, 128 |
|
 |
CNTNAP2 DNA Sequencing Test, 741 |
|
 |
Co-GM1 Quattro™, 277 |
|
 |
Complete ALS Evaluation, 723 |
|
 |
Complete Ataxia Evaluation, 695 |
|
 |
Complete Ataxia-Telangiectasia (ATM) Evaluation, 353 |
|
 |
Complete CADASIL Evaluation, 421 |
|
 |
Complete CMT Evaluation, 404 |
|
 |
Complete Dejerine-Sottas Neuropathy Evaluation, 286 |
|
 |
Complete DMD Evaluation - Females, 182 |
|
 |
Complete DMD Evaluation - Males, 181 |
|
 |
Complete Dopa-Responsive Dystonia (DYT5) Evaluation, 629 |
|
 |
Complete Hereditary Spastic Paraplegia Evaluation, 650 |
|
 |
Complete HNPP Evaluation, 243 |
|
 |
Complete Myotonia Evaluation, 147 |
|
 |
Complete Myotonic Dystrophy Evaluation, 126 |
|
 |
Complete Parkinsonism Evaluation, 555 |
|
 |
Complete Rett Syndrome Evaluation, 153 |
|
 |
Complete SCN1A Evaluation, 573 |
|
 |
Complete SMA Evaluation (Reflexive), 215 |
|
 |
Complete Tuberous Sclerosis Evaluation, 556 |
|
 |
Complete Tuberous Sclerosis Evaluation (Old), 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, 414 |
|
 |
DRPLA DNA Test, 401 |
|
 |
Dysferlin Blood Test, 561 |
|
 |
Dysferlin DNA Sequencing Test, 571 |
|
 |
Dystonia (DYT1) DNA Test, 626 |
|
 |
Dystrophin Test, 100 |
|
 |
Early Onset Myotonia Evaluation, 207 |
|
 |
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 Type I DNA Test, 187 |
|
 |
Familial Hemiplegic Migraine Type II DNA Test, 188 |
|
 |
Familial Hemiplegic Migraine Type III DNA Test (Target Exon Analysis), 189 |
|
 |
Febrile Seizures Evaluation, 548 |
|
 |
Female Febrile Seizures Evaluation, 507 |
|
 |
FIG4 DNA Sequencing Test, 225 |
|
 |
FKRP DNA Sequencing Test, 562 |
|
 |
Fragile X DNA Test, 104 |
|
 |
Friedreich Ataxia DNA Test, 119 |
|
 |
Friedreich's Ataxia DNA Sequencing Analysis, 348 |
|
 |
Friedreich's Ataxia Profile, 349 |
|
 |
FSHD DNA Test, 405 |
|
 |
FUS DNA Sequencing Test, 619 |
|
 |
FXTAS DNA Test, 106 |
|
 |
GABRG2 DNA Sequencing Test, 544 |
|
 |
GALOP™ Antibody Test, 261 |
|
 |
Ganglionic nAChR Antibody Test, 428 |
|
 |
GARS (CMT2D) DNA Sequencing Test, 228 |
|
 |
GCH1 Deletion Analysis (DYT5), 638 |
|
 |
GCH1 DNA Sequencing Test, 637 |
|
 |
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 |
|
 |
Hemiplegic Migraine Evaluation, 190 |
|
 |
HSPB1 (CMT2F) DNA Sequencing Test, 229 |
|
 |
Huntington's Disease DNA Test, 116 |
|
 |
KCNJ10 (EAST Syndrome) DNA Sequencing Test, 572 |
|
 |
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 |
|
 |
LMNA (CMT2B1) DNA Sequencing Test, 226 |
|
 |
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 |
|
 |
MuSK Quantitative Titers Antibody Test, 482 |
|
 |
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™, 431 |
|
 |
NeoComplete Paraneoplastic Profile with Recombx™, 429 |
|
 |
NeoEncephalitis Paraneoplastic Profile with Recombx™, 432 |
|
 |
NeoPLAST® Basic Paraneoplastic Profile, 365 |
|
 |
NeoSeM® Basic Paraneoplastic Profile, 360 |
|
 |
NeoSensory Neuropathy Paraneoplastic Profile with Recombx™, 436 |
|
 |
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 |
|
 |
Paraplegin (SPG7) DNA Sequencing Test, 632 |
|
 |
Parkin DNA Test , 540 |
|
 |
Partial CMT Evaluation - Demyelinating Only, 407 |
|
 |
Partial CMT Evaluation - Recessive Only, 406 |
|
 |
Partial CMT Evaluation - Recessive Only, 409 |
|
 |
Partial CMT- Axonal Only, 413 |
|
 |
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 |
|
 |
PCDH19 (EFMR) DNA Sequencing Test, 509 |
|
 |
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 |
|
 |
RAB7 (CMT2B) DNA Sequencing test, 227 |
|
 |
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 |
|
 |
Rett Syndrome (MECP2) Duplication/Deletion Analysis, 148 |
|
 |
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 DNA Sequencing Test, 675 |
|
 |
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 |
|
 |
SCN4A DNA Sequencing test, 146 |
|
 |
SensoriMotor Neuropathy Profile, 264 |
|
 |
SensoriMotor Neuropathy Profile-Complete, 287 |
|
 |
Sensory Neuropathy Profile, 265 |
|
 |
Sensory Neuropathy Profile-xp, 263 |
|
 |
SETX DNA Sequencing Test, 594 |
|
 |
SGCA, B, D, G DNA Sequencing Test, 568 |
|
 |
SGCE Deletion Analysis (DYT11), 627 |
|
 |
SGCE Sequencing Test (DYT11), 624 |
|
 |
SH3TC2 DNA Sequencing Test, 224 |
|
 |
SHANK3 DNA Sequencing Test, 742 |
|
 |
SIL1 (Marinesco-Sjogren Syndrome) DNA Sequencing Test, 282 |
|
 |
SLC2A1 (GLUT1-DS) DNA Sequencing test, 441 |
|
 |
SMA Carrier Plus (Reflexive), 448 |
|
 |
SMA Plus (Reflexive), 214 |
|
 |
Small Fiber Painful Axonal Neuropathy Profile, 234 |
|
 |
SMN DNA Sequencing Test, 211 |
|
 |
Spastin (SPG4) Deletion Test, 534 |
|
 |
Spastin (SPG4) DNA Sequencing Test , 530 |
|
 |
Spatacsin (SPG11) DNA Sequencing Test, 633 |
|
 |
Spinal Muscular Atrophy Carrier Test, 111C |
|
 |
Spinal Muscular Atrophy Carrier Test, 444 |
|
 |
Spinal Muscular Atrophy Diagnostic Test, 111D |
|
 |
Spinal Muscular Atrophy with Respiratory Distress (SMARD) - IGHMBP2 DNA Sequencing Test, 212 |
|
 |
Sulfatide Antibody Test, 210 |
|
 |
TARDBP DNA Sequencing Test, 621 |
|
 |
TH DNA Sequencing Test (DYT5), 634 |
|
 |
THROMBOGENE V® Test, 090 |
|
 |
THROMBX® Evaluation Profile I , 098 |
|
 |
THROMBX® Evaluation Profile II, 099 |
|
 |
TSC Familial Mutation Evaluation, 523 |
|
 |
TSC1 Deletion Analysis, 508 |
|
 |
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 |
|
 |
X-Linked Spinal Muscular Atrophy (XLSMA) - UBE1 DNA Sequencing Test, 213 |
|
 |
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 |
|
 |
ABCC8 (NDM) DNA Sequencing Test, 876 |
|
 |
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 |
|
 |
Early-Onset Obesity Evaluation, 884 |
|
 |
Endocrine Hypertension (HSD11B2) Evaluation, 881 |
|
 |
Familial DNA Sequence Evaluation (Endocrinology), 800 |
|
 |
Familial Hypocalciuric Hypercalcemia (CASR) Evaluation, 829 |
|
 |
GCK (CH) DNA Sequencing Test, 823 |
|
 |
GCK (MODY2) DNA Sequencing and DeletionTest, 803 |
|
 |
GCK (NDM) DNA Sequencing Test, 842 |
|
 |
GH1 (GHD) DNA Sequencing Test, 866 |
|
 |
GHR DNA Sequencing Test, 867 |
|
 |
GHRHR (GHD) DNA Sequencing Test, 868 |
|
 |
GLUD1 (CH) DNA Sequencing Test, 822 |
|
 |
Growth Hormone Deficiency Evaluation, 848 |
|
 |
HNF4A (MODY1) DNA Sequencing and Deletion Test, 802 |
|
 |
HSD3B2 DNA Sequencing Test, 878 |
|
 |
Hypercholesterolemia Evaluation, 895 |
|
 |
Hypophosphatemic Rickets Evaluation, 857 |
|
 |
INS (NDM) DNA Sequencing Test, 853 |
|
 |
IPF1 (MODY4) DNA Sequencing Test, 834 |
|
 |
IPF1 (NDM) DNA Sequencing Test, 841 |
|
 |
KCNJ11 (CH) DNA Sequencing Test, 826 |
|
 |
KCNJ11 (NDM) DNA Sequencing Test, 843 |
|
 |
LEPR DNA Sequencing Test, 883 |
|
 |
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, 850 |
|
 |
Neonatal Diabetes Mellitus Evaluation, 882 |
|
 |
Neonatal Diabetes Mellitus Evaluation (Old), 844 |
|
 |
Nephrogenic Diabetes Insipidus Evaluation, 854 |
|
 |
Noonan Syndrome (PTPN11) Evaluation, 846 |
|
 |
Osteogenesis Imperfecta Evaluation, 860 |
|
 |
Pheochromocytoma Evaluation, 889 |
|
 |
POU1F1 (CPHD) DNA Sequencing Test, 864 |
|
 |
Primary Adrenal Insufficiency Evaluation, 816 |
|
 |
PROP1 (CPHD) DNA Sequencing Test, 863 |
|
 |
SDHB DNA Sequencing Test, 888 |
|
 |
SHOX (GHD) DNA Sequencing Test, 847 |
|
 |
TCF1 (MODY3) DNA Sequencing and Deletion Test, 804 |
|
 |
TCF2 (MODY5) DNA Sequencing and Deletion Test, 805 |
|
 |
Von Hippel-Lindau Syndrome (VHL) Evaluation, 858 |
|
 |
ACTN4 DNA Sequencing Test, 711 |
|
 |
Autosomal Dominant Hypocalcemia (ADH) Evaluation, 825 |
|
 |
COL4A3 DNA Sequencing Test, 757 |
|
 |
COL4A4 DNA Sequencing Test, 758 |
|
 |
COL4A5 Deletion Analysis, 756 |
|
 |
COL4A5 Sequencing and Deletion Analysis, 755 |
|
 |
Complete Alport Syndrome Evaluation, 759 |
|
 |
Complete PKD Evaluation, 761 |
|
 |
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 |
|
 |
PKD Deletion Analysis, 760 |
|
 |
PKDx® Familial Mutation Evaluation, 728 |
|
 |
PKDx® Sequencing Analysis, 725 |
|
 |
TRPC6 DNA Sequencing Test, 712 |
|
 |
WT1 DNA Sequencing Test, 713 |
|
 |
CHRNB2 DNA Sequencing Test, 547b |
|