|
 |
180K WholeGenome Chromosomal Microarray Analysis, 783 |
|
|
44K WholeGenome Chromosomal Microarray Analysis, 702 |
|
|
60K WholeGenome Chromosomal Microarray Analysis, 782 |
|
|
ABCD1 (Neurology) DNA Sequencing Test, 6108 |
|
|
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 |
|
|
AHI1 DNA Sequencing Test (Joubert Syndrome), 790 |
|
|
Alexander Disease (GFAP) DNA Sequencing Test, 549 |
|
|
Alpha Synuclein (SNCA) DNA Sequencing Test, 557 |
|
|
Alpha Synuclein (SNCA) Duplication/Deletion Test, 059 |
|
|
Amphiphysin Antibody Test, 427 |
|
|
Amyloidosis Evaluation (TTR), 235 |
|
|
ANG DNA Sequencing test, 622 |
|
|
ANO5 DNA Sequencing Test, 589 |
|
|
ANT1 (SLC25A4) DNA Sequencing Test (related to mtDNA depletion), 466 |
|
|
ApoE Genotype Analysis, 166 |
|
|
Aprataxin DNA Sequencing Test , 493 |
|
|
ARSA DNA Sequencing Test, 6107 |
|
|
ARX DNA Sequencing Test , 141 |
|
|
ARX DNA Sequencing Test (Epilepsy), 657 |
|
|
ARX Duplication/Deletion Test (Epilepsy), 065 |
|
|
ARX Duplication/Deletion Test (Intellectual Disability), 041 |
|
|
ARX Evaluation (Epilepsy), 797 |
|
|
ARX Evaluation (Intellectual Disability), 773 |
|
|
ASPM DNA Sequencing Test, 784 |
|
|
Ataxia-Telangiectasia (ATM) DNA Deletion Analysis, 352 |
|
|
Ataxia-Telangiectasia (ATM) DNA Sequencing Analysis, 351 |
|
|
ATL1 (HSAN) DNA Sequencing Test, 660 |
|
|
Atlastin (SPG3A) DNA Sequencing Test , 531 |
|
|
Autism Spectrum Disorders Evaluation, 769 |
|
|
Autosomal Dominant Ataxia Evaluation, 697 |
|
|
Autosomal Dominant Hereditary Spastic Paraplegia Evaluation, 653 |
|
|
Autosomal Recessive Ataxia Evaluation, 693 |
|
|
Autosomal Recessive Hereditary Spastic Paraplegia Evaluation, 654 |
|
|
BAbScreen®/NAbFeron® Antibody Test, 194 |
|
|
BAG3 DNA Sequencing Test, 623 |
|
|
Botulinum Toxin Type A Antibody Test, 113 |
|
|
BSCL2 DNA Sequencing Test, 631 |
|
|
C9ORF72 (FTD) DNA Test, 209 |
|
|
C9ORF72 DNA Test, 670 |
|
|
CACNA1S DNA Sequencing Test, 641 |
|
|
Calpain 3 DNA Sequencing Test, 563 |
|
|
CAPN3 Deletion Analysis, 584 |
|
|
CAPN3 Evaluation, 585 |
|
|
CASPR2 Antibody Test, 499 |
|
|
Caveolin 3 DNA Sequencing Test, 566 |
|
|
CC2D2A DNA Sequencing Test (Joubert Syndrome), 794 |
|
|
CCM2 Deletion Analysis, 685 |
|
|
CCM2 DNA Sequencing Test, 684 |
|
|
CCM2 Evaluation, 686 |
|
|
CDKL5 DNA Sequencing Test, 149 |
|
|
CDKL5 DNA Sequencing Test (Epilepsy), 678 |
|
|
CDKL5 Duplication/Deletion Test (Epilepsy), 067 |
|
|
CDKL5 Duplication/Deletion Test (Intellectual Disability), 049 |
|
|
CDKL5 Evaluation, 785 |
|
|
CDKL5 Evaluation (Epilepsy), 799 |
|
|
CEP290 DNA Sequencing Test (Joubert Syndrome), 791 |
|
|
Chorea Differential Evaluation, 402 |
|
|
CHRNA4 DNA Sequencing Test, 546 |
|
|
Chromosome Analysis, 707 |
|
|
Chronic Demyelinative Neuropathy Profile, 347 |
|
|
CLCN1 DNA Sequencing Test, 128 |
|
|
CMT Advanced Evaluation - Axonal, 4008 |
|
|
CMT Advanced Evaluation - Comprehensive, 4001 |
|
|
CMT Advanced Evaluation - Demyelinating, 4007 |
|
|
CMT Advanced Evaluation - Dominant, 4005 |
|
|
CMT Advanced Evaluation - Dominant, Axonal, 4003 |
|
|
CMT Advanced Evaluation - Dominant, Demyelinating, 4002 |
|
|
CMT Advanced Evaluation - Recessive, 4006 |
|
|
CMT Advanced Evaluation - Recessive, Demyelinating, 4004 |
|
|
CNTNAP2 DNA Sequencing Test, 741 |
|
|
Co-GM1 Quattro™, 277 |
|
|
Cohen Syndrome (COH1) DNA Sequencing Test, 729 |
|
|
COL4A1 DNA Sequencing Test (CSVD), 424 |
|
|
COL6A1 DNA Sequencing Test, 201 |
|
|
COL6A2 DNA Sequencing Test, 202 |
|
|
COL6A3 DNA Sequencing Test, 203 |
|
|
Collagen VI-Related CMD Evaluation, 293 |
|
|
Common Mitochondrial Disorders Evaluation, 575 |
|
|
Complete ALS Evaluation, 643 |
|
|
Complete Ataxia Evaluation, 696 |
|
|
Complete Ataxia-Telangiectasia (ATM) Evaluation, 353 |
|
|
Complete CADASIL Evaluation, 421 |
|
|
Complete Cerebral Cavernous Malformation (CCM) Evaluation, 692 |
|
|
Complete Congenital Muscular Dystrophy (CMD) Evaluation, 295 |
|
|
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, 655 |
|
|
Complete HNPP Evaluation, 243 |
|
|
Complete Myotonia Evaluation, 147 |
|
|
Complete Myotonic Dystrophy Evaluation, 126 |
|
|
Complete Parkinsonism Evaluation, 588 |
|
|
Complete Rett Syndrome Evaluation, 153 |
|
|
Complete Sarcoglycans Evaluation, 587 |
|
|
Complete SCN1A Evaluation, 573 |
|
|
Complete SMA Evaluation (Reflexive), 215 |
|
|
Complete Tuberous Sclerosis Evaluation, 556 |
|
|
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 |
|
|
CRYAB DNA Sequencing Test, 602 |
|
|
CSTB (EPM1) DNA Sequencing Test, 671 |
|
|
CSTB (EPM1) Evaluation, 674 |
|
|
CYP7B1 (SPG5A) DNA Sequencing Test, 612 |
|
|
DES DNA Sequencing Test, 604 |
|
|
DGUOK DNA Sequencing Test (related to mtDNA depletion), 487 |
|
|
DM1 DNA Test, 108 |
|
|
DM2 DNA Test, 110 |
|
|
DNM2 DNA Sequencing Test, 253 |
|
|
DRPLA DNA Test, 401 |
|
|
Dysferlin DNA Sequencing Test, 571 |
|
|
Dysferlin Protein Blood Test, 561 |
|
|
Dystonia (DYT1) DNA Test, 626 |
|
|
Dystrophin Test, 100 |
|
|
Early Infantile Epileptic Encephalopathy (EIEE) Evaluation, 781 |
|
|
Early Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation, 691 |
|
|
Early Onset Myotonia Evaluation, 207 |
|
|
EFHC1 (JME) DNA Sequencing Test, 417 |
|
|
EGR2 DNA Sequencing Test, 248 |
|
|
EIF2B1 DNA Sequencing Test, 6101 |
|
|
EIF2B2 DNA Sequencing Test, 6102 |
|
|
EIF2B3 DNA Sequencing Test, 6103 |
|
|
EIF2B4 DNA Sequencing Test, 6104 |
|
|
EIF2B5 DNA Sequencing Test, 6105 |
|
|
EMD Sequencing Test, 567 |
|
|
Emery-Dreifuss Muscular Dystrophy Evaluation, 669 |
|
|
Entrapment Neuropathy Evaluation, 296 |
|
|
Epilepsy Associated with Fever Evaluation, 548 |
|
|
Epilepsy Associated with Fever in Females Evaluation, 507 |
|
|
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 (CACNA1A) DNA Test, 187 |
|
|
Familial Hemiplegic Migraine Type II (ATP1A2) DNA Test, 188 |
|
|
Familial Hemiplegic Migraine Type III (SCN1A) DNA Test (Target Exon Analysis), 189 |
|
|
FCMD/FKTN DNA Sequencing Test, 232 |
|
|
FGD4 DNA Sequencing Test, 208 |
|
|
FHL1 DNA Sequencing Test, 574 |
|
|
FIG4 DNA Sequencing Test, 225 |
|
|
FKRP (CMD) DNA Sequencing Test, 216 |
|
|
FKRP DNA Sequencing Test, 562 |
|
|
FLNC DNA Sequencing Test, 606 |
|
|
FOXG1 Deletion Test, 074 |
|
|
FOXG1 DNA Sequencing Test, 740 |
|
|
FOXG1 Evaluation, 7410 |
|
|
Fragile X DNA Test, 104 |
|
|
Friedreich Ataxia DNA Test, 119 |
|
|
Friedreich's Ataxia DNA Sequencing Analysis, 348 |
|
|
Friedreich's Ataxia Profile, 349 |
|
|
Frontotemporal Dementia Evaluation, 281 |
|
|
FSHD DNA Test, 405 |
|
|
FUS DNA Sequencing Test, 619 |
|
|
FXTAS DNA Test, 106 |
|
|
GABRG2 DNA Sequencing Test, 544 |
|
|
GAD65 Antibody Test, 422 |
|
|
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 |
|
|
GJC2 DNA Sequencing Test, 6109 |
|
|
Glycogen Storage Myopathy 'A' Profile, 502 |
|
|
Glycogen Storage Myopathy 'B' Profile, 503 |
|
|
GQ1b Autoantibody Test, 160 |
|
|
GRN DNA Sequencing Test, 204 |
|
|
Hemiplegic Migraine Evaluation, 190 |
|
|
HSPB1 (CMT2F) DNA Sequencing Test, 229 |
|
|
HSPB8 DNA Sequencing Test, 463 |
|
|
HTRA1 DNA Sequencing Test (CARASIL), 442 |
|
|
Huntington's Disease DNA Test, 116 |
|
|
Hypokalemic Periodic Paralysis (HOKPP) Evaluation, 649 |
|
|
Joubert Syndrome Evaluation, 795 |
|
|
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 |
|
|
KIF5A (SPG10) DNA Sequencing Test, 613 |
|
|
KRIT1 (CCM1) Deletion Analysis, 682 |
|
|
KRIT1 (CCM1) DNA Sequencing Test, 681 |
|
|
KRIT1 (CCM1) Evaluation, 683 |
|
|
Lafora Disease Evaluation , 415 |
|
|
LAMA2 (CMD) DNA Sequencing Test, 217 |
|
|
Lamin A/C DNA Sequencing Test, 565 |
|
|
Late Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation, 698 |
|
|
LDB3 (ZASP) DNA Sequencing Test, 607 |
|
|
LEMS Antibody Test, 475 |
|
|
Leukoencephalopathy with Vanishing White Matter, 6106 |
|
|
LGI1 Antibody Test, 449 |
|
|
LHON mtDNA Evaluation, 515 |
|
|
Limb Girdle Muscular Dystrophy Evaluation, 603 |
|
|
Lipid Storage Myopathy Profile, 504 |
|
|
LITAF/SIMPLE DNA Sequencing Test, 222 |
|
|
LMNA (CMT2B1) DNA Sequencing Test, 226 |
|
|
LRRK2 DNA Sequencing Test, 558 |
|
|
LRRK2 DNA Test, 543 |
|
|
MAG 'Dual Antigen'® Autoantibody Test, 145 |
|
|
Male Muscular Dystrophy Reflexive Profile, 506 |
|
|
MAPT DNA Sequencing Test, 205 |
|
|
MCPH1 DNA Sequencing Test, 786 |
|
|
MEF2C Deletion Test, 077 |
|
|
MELAS mtDNA Evaluation, 517 |
|
|
MERRF mtDNA Evaluation, 518 |
|
|
MFN2 DNA Sequencing Test, 223 |
|
|
MIRAS-Specific POLG1 DNA Test, 383 |
|
|
Mitochondrial Encephalomyopathic Evaluation, 579 |
|
|
Mitochondrial Enzyme Deficiency Myopathy Panel, 500 |
|
|
Mitochondrial Hepatoencephalopathic Evaluation, 578 |
|
|
Mitochondrial Neurogastrointestinal Encephalopathy Evaluation (MNGIE), 577 |
|
|
Motor Neuropathy Profile - Complete, 346 |
|
|
Motor Neuropathy Profile-Standard, 259 |
|
|
MPV17 DNA Sequencing Test (related to mtDNA depletion), 488 |
|
|
MR-1 (PNKD) DNA Sequencing Test, 617 |
|
|
MTMR2 DNA Sequencing Test, 354 |
|
|
Multifocal Motor Neuropathy Evaluation, 356 |
|
|
MuSK Quantitative Titers Antibody Test, 482 |
|
|
Myelin Protein Zero (MPZ) DNA Sequencing Test, 134 |
|
|
Myoclonus Epilepsy Evaluation, 418 |
|
|
Myoclonus Epilepsy Evaluation, 699 |
|
|
Myofibrillar Myopathy (MFM) Evaluation, 636 |
|
|
Myoglobinuria Test Panel, 501 |
|
|
MYOT (MFM) DNA Sequencing Test, 616 |
|
|
MYOT DNA Sequencing Test, 581 |
|
|
NAbFeron® (IFNΒ-1) Neutralizing Antibody Test, 112 |
|
|
NARP mtDNA Evaluation, 516 |
|
|
NDRG1 DNA Sequencing Test, 394 |
|
|
NeoCerebellar Degeneration Paraneoplastic Profile with Recombx, 438 |
|
|
NeoComplete Paraneoplastic Profile with Recombx, 467 |
|
|
NeoEncephalitis Paraneoplastic Profile with Recombx, 447 |
|
|
NeoSeM® Basic Paraneoplastic Profile, 360 |
|
|
NeoSensory Neuropathy Paraneoplastic Profile with Recombx™, 436 |
|
|
Neurofibromatosis Type 1 Deletion Test, 647 |
|
|
Neurofibromatosis Type 1 DNA Sequencing Test, 646 |
|
|
Neurofibromatosis Type 2 (NF2) Duplication/Deletion Test, 644 |
|
|
Neurofibromatosis Type 2 (NF2) Evaluation, 645 |
|
|
Neurofibromatosis Type 2 DNA Sequencing Test, 635 |
|
|
Neurofibromatosis Type I (NF1) Evaluation, 648 |
|
|
Neurofilament Light (NFL) DNA Sequencing Test, 249 |
|
|
Neuromyotonia Evaluation, 494 |
|
|
NIPA1 (SPG6) DNA Sequencing Test , 532 |
|
|
NMDA Receptor (NR1) Antibody Test, 419 |
|
|
NMO-IgG Autoantibody Test, 193 |
|
|
Non-Syndromic Congenital Muscular Dystrophy (CMD) Evaluation, 269 |
|
|
NPHP1 Deletion Test (Joubert Syndrome), 793 |
|
|
NS6S Antibody Test, 344 |
|
|
NTRK1 DNA Sequencing Test, 659 |
|
|
OPA1 DNA Sequencing Test (related to mtDNA depletion), 469 |
|
|
OPMD DNA Test, 300 |
|
|
Optic Atrophy Evaluation (OPA1), 490 |
|
|
OPTN DNA Sequencing Test, 609 |
|
|
OtoDx™ Aminoglycoside Hypersensitivity Test, 327 |
|
|
Paraplegin (SPG7) DNA Sequencing Test, 632 |
|
|
PARK2 (Parkin) DNA Sequencing Test, 559 |
|
|
PARK2 (Parkin) Duplication/Deletion Test, 040 |
|
|
PARK7 (DJ1) Deletion Test, 047 |
|
|
PARK7 (DJ1) DNA Sequencing Test, 554 |
|
|
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 |
|
|
PDCD10 (CCM3) Deletion Analysis, 688 |
|
|
PDCD10 (CCM3) DNA Sequencing Test, 687 |
|
|
PDCD10 (CCM3) Evaluation, 689 |
|
|
PDHA1 DNA Sequencing Test, 824 |
|
|
Periaxin DNA Sequencing Test, 239 |
|
|
Peroxisomal Disorders Test, 600 |
|
|
PINK1 Deletion Test, 058 |
|
|
PINK1 DNA Sequencing Test, 542 |
|
|
PLP1 DNA Sequencing Test, 6112 |
|
|
PLP1 Duplication Test, 6111 |
|
|
PLP1 Evaluation, 6110 |
|
|
PMP22 DNA Sequencing Test, 247 |
|
|
PMP22 Duplication/Deletion DNA Test, 131 |
|
|
POLG DNA Sequencing Test (Alpers' Syndrome), 443 |
|
|
POLG DNA Sequencing Test (related to all allelic disorders), 474 |
|
|
POMGNT1 (CMD) DNA Sequencing Test, 220 |
|
|
POMT1 (CMD) DNA Sequencing Test, 218 |
|
|
POMT2 (CMD) DNA Sequencing Test, 219 |
|
|
Primary Dystonia Evaluation, 639 |
|
|
Primary Microcephaly Evaluation, 788 |
|
|
Progressive External Ophthalmoplegia Evaluation , 576 |
|
|
PRRT2 (BFIE) DNA Sequencing Test, 656 |
|
|
PRRT2 (Dyskinesia/IC) DNA Sequencing Test, 666 |
|
|
PTCHD1 DNA Sequencing Test, 768 |
|
|
PTEN DNA Sequencing Test, 744 |
|
|
RAB7 (CMT2B) DNA Sequencing test, 227 |
|
|
Recombx™ CAR (Anti-Recoverin) Autoantibody Test , 118 |
|
|
Recombx™ MaTa Autoantibody Test, 122 |
|
|
Recombx™ CV2 Antibody Test, 123 |
|
|
Recombx™ Hu Autoantibody Test, 120 |
|
|
Recombx™ Ri Autoantibody Test, 115 |
|
|
Recombx™ Yo Autoantibody Test, 125 |
|
|
Recombx™ Zic4 Antibody Test, 127 |
|
|
REEP1 (SPG31) Deletion Analysis, 665 |
|
|
REEP1 (SPG31) DNA Sequencing Test, 529 |
|
|
Rett Syndrome (MECP2) DNA Sequencing Test , 142 |
|
|
Rett Syndrome (MECP2) Duplication/Deletion Analysis, 148 |
|
|
RRM2B DNA Sequencing Test (related to mtDNA depletion), 486 |
|
|
SBF2 DNA Sequencing Test, 164 |
|
|
SCA1 DNA Test, 371 |
|
|
SCA10 DNA Test, 387 |
|
|
SCA12 (PPP2R2B) DNA Test, 285 |
|
|
SCA13 Select Exon DNA Test, 284 |
|
|
SCA14 DNA Test, 593 |
|
|
SCA17 DNA Test, 388 |
|
|
SCA2 Expansion Analysis, 672 |
|
|
SCA28 (AFG3L2) DNA Sequencing Test, 673 |
|
|
SCA3 (Machado-Joseph Disease) DNA Test, 105 |
|
|
SCA5 DNA Sequencing Test, 675 |
|
|
SCA6 DNA Test, 373 |
|
|
SCA7 Expansion Analysis, 677 |
|
|
SCA8 DNA Test, 384 |
|
|
SCARB2 DNA Sequencing Test, 798 |
|
|
SCN1A Deletion Test, 537 |
|
|
SCN1A DNA Sequencing Test , 535 |
|
|
SCN1B DNA Sequencing Test, 538 |
|
|
SCN4A (HOKPP) DNA Sequencing Test, 642 |
|
|
SCN4A DNA Sequencing test, 146 |
|
|
SensoriMotor Neuropathy Profile, 264 |
|
|
SensoriMotor Neuropathy Profile-Complete, 287 |
|
|
Sensory Neuropathy Profile, 265 |
|
|
Sensory Neuropathy Profile-xp, 263 |
|
|
SEPT9 DNA Sequencing Test, 719 |
|
|
SETX DNA Sequencing Test, 594 |
|
|
SGCA Deletion Test, 582 |
|
|
SGCA DNA Sequencing Test, 564 |
|
|
SGCA, B, D, G DNA Sequencing Test, 568 |
|
|
SGCB DNA Sequencing Test, 051 |
|
|
SGCD DNA Sequencing Test, 052 |
|
|
SGCE Deletion Analysis (DYT11), 627 |
|
|
SGCE Sequencing Test (DYT11), 624 |
|
|
SGCG Deletion Test, 583 |
|
|
SGCG DNA Sequencing Test, 053 |
|
|
SH3TC2 DNA Sequencing Test, 224 |
|
|
SHANK2 DNA Sequencing Test, 724 |
|
|
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 |
|
|
Smith-Lemli-Opitz Syndrome (DHCR7) DNA Sequencig Test, 737 |
|
|
Smith-Magenis (RAI1) Deletion Test, 751 |
|
|
Smith-Magenis (RAI1) Sequencing Test, 752 |
|
|
Smith-Magenis(RAI1) Reflexive Profile, 753 |
|
|
SMN DNA Sequencing Test, 211 |
|
|
Spastin (SPG4) Deletion Test, 534 |
|
|
Spastin (SPG4) DNA Sequencing Test , 530 |
|
|
Spastizin (ZYFVE26) DNA Sequencing Test (SPG15), 614 |
|
|
Spatacsin (SPG11) DNA Sequencing Test, 633 |
|
|
Spinal Muscular Atrophy Diagnostic Test, 111D |
|
|
Spinal Muscular Atrophy with Respiratory Distress (SMARD) - IGHMBP2 DNA Sequencing Test, 212 |
|
|
SPTLC1 DNA Sequencing Test, 551 |
|
|
SPTLC2 DNA Sequencing Test, 552 |
|
|
STXBP1 DNA Sequencing Test, 778 |
|
|
Sulfatide Autoantibody Test, 210 |
|
|
Syndromic Congenital Muscular Dystrophy (CMD) Evaluation, 237 |
|
|
SYNGAP1 DNA Sequencing Test, 771 |
|
|
TARDBP DNA Sequencing Test, 621 |
|
|
TH DNA Sequencing Test (DYT5), 634 |
|
|
THAP1 (DYT6) DNA Sequencing Test, 618 |
|
|
THROMBOGENE V® Test, 090 |
|
|
THROMBX® Evaluation Profile I , 098 |
|
|
THROMBX® Evaluation Profile II, 099 |
|
|
TK2 DNA Sequencing Test (related to mtDNA depletion), 489 |
|
|
TMEM216 DNA Sequencing (Joubert Syndrome), 789 |
|
|
TMEM67 DNA Sequencing Test (Joubert Syndrome), 792 |
|
|
TRPV4 DNA Sequencing Test, 144 |
|
|
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 |
|
|
TWINKLE (PEO1/C10orf2) DNA Sequencing Test (related to mtDNA depletion), 479 |
|
|
TYMP DNA Sequencing Test (related to mtDNA depletion), 484 |
|
|
Tysabri® Antibody Test, 197 |
|
|
UBQLN2 DNA Sequencing Test, 611 |
|
|
VCP DNA Sequencing Test, 610 |
|
|
VGKC Antibody Test, 485 |
|
|
WDR62 DNA Sequencing Test, 787 |
|
|
WNK1 DNA Sequencing Test, 553 |
|
|
X-Linked Spinal Muscular Atrophy (XLSMA) - UBE1 DNA Sequencing Test, 213 |
|
|
YARS DNA Sequencing Test, 468 |
|
|
ABCD1 (Adrenoleukodystrophy) DNA Sequencing Test, 815 |
|
|
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 |
|
|
Anosmic Kallmann/IHH Evaluation, 462 |
|
|
ApoB Mutation Analysis , 893 |
|
|
AQP2 (Nephrogenic Diabetes Insipidus) DNA Sequencing Test, 852 |
|
|
Autoimmune Polyglandular Syndrome (AIRE) Evaluation, 812 |
|
|
Bardet-Biedl Syndrome Evaluation, 887 |
|
|
BBS10 (BBS) DNA Sequencing Test, 886 |
|
|
CEL (MODY8) Mutation Analysis, 837 |
|
|
CHD7 DNA Sequencing Test, 461 |
|
|
COL1A1 (OI) DNA Sequencing Test, 861 |
|
|
COL1A2 (OI) DNA Sequencing Test, 862 |
|
|
Combined Pituitary Hormone Deficiency Evaluation, 865 |
|
|
Complete Kallmann/IHH Evaluation, 679 |
|
|
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 |
|
|
Diabetes Antibody Evaluation, 897 |
|
|
Diabetes Antibody Panel with Negative Reflex to MODY 1, 2, 3, 809 |
|
|
Early Onset Obesity (LEPR) DNA Sequencing Test, 883 |
|
|
Early Onset Obesity (MC4R) DNA Sequencing Test, 640 |
|
|
Early-Onset Obesity Evaluation, 884 |
|
|
Endocrine Hypertension (HSD11B2) Evaluation, 881 |
|
|
Familial DNA Sequence Evaluation (Endocrinology), 800 |
|
|
Familial Hypocalciuric Hypercalcemia (CASR) DNA Sequencing Test, 829 |
|
|
FGF8 DNA Sequencing Test, 195 |
|
|
FGFR1 DNA Sequencing Test, 196 |
|
|
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 |
|
|
Glutamic Acid Decarboxylase-65 Antibody, 820 |
|
|
Glutamic Acid Decarboxylase-65 Antibody with Negative Reflex to MODY 1, 2, 3, 806 |
|
|
GnRH1 DNA Sequencing Test, 343 |
|
|
GnRHR DNA Sequencing Test, 279 |
|
|
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 |
|
|
IA-2 Antibody Test, 838 |
|
|
IA-2 Antibody Test with Negative Reflex to MODY 1, 2, 3, 807 |
|
|
INS (NDM) DNA Sequencing Test, 853 |
|
|
Insulin Autoantibody, 896 |
|
|
Insulin Autoantibody (IAA) with Negative Reflex to MODY 1, 2, 3, 808 |
|
|
IPF1 (MODY4) DNA Sequencing Test, 834 |
|
|
IPF1 (NDM) DNA Sequencing Test, 841 |
|
|
KAL1 DNA Sequencing Test, 173 |
|
|
KCNJ11 (CH) DNA Sequencing Test, 826 |
|
|
KCNJ11 (NDM) DNA Sequencing Test, 843 |
|
|
KISS1R DNA Sequencing Test, 364 |
|
|
KRAS DNA Sequencing Test, 664 |
|
|
KRAS/RAF1/SOS1 DNA Sequencing Evaluation, 658 |
|
|
Lipoid CAH (StAR) Evaluation, 874 |
|
|
LRP5 (OPPG) DNA Sequencing Test, 811 |
|
|
LRP5 Idiopathic Osteoporosis (IOP) DNA Sequencing Test, 821 |
|
|
Male Precocious Puberty (LHCGR) DNA Sequencing Test, 817 |
|
|
MEN1 (MEN1) DNA Sequencing Test, 818 |
|
|
MEN2 (RET) DNA Sequencing Test, 813 |
|
|
Monogenic Diabetes (MODY) Evaluation, 885 |
|
|
Neonatal Diabetes Mellitus Evaluation, 882 |
|
|
Nephrogenic Diabetes Insipidus (AVPR2) DNA Sequencing Test, 851 |
|
|
Nephrogenic Diabetes Insipidus Evaluation, 854 |
|
|
Noonan Syndrome (PTPN11) DNA Sequencing Test, 846 |
|
|
Normosmic Kallmann/IHH Evaluation, 667 |
|
|
Osteogenesis Imperfecta Evaluation, 860 |
|
|
Pheochromocytoma Evaluation, 889 |
|
|
POU1F1 (CPHD) DNA Sequencing Test, 864 |
|
|
Primary Adrenal Insufficiency Evaluation, 816 |
|
|
PROK2 DNA Sequencing Test, 175 |
|
|
PROKR2 DNA Sequencing Test, 180 |
|
|
PROP1 (CPHD) DNA Sequencing Test, 863 |
|
|
RAF1 DNA Sequencing Test, 663 |
|
|
SDHB DNA Sequencing Test, 888 |
|
|
SHOX (GHD) DNA Sequencing and Deletion Test, 847 |
|
|
SOS1 DNA Sequencing Test, 662 |
|
|
TACR3 DNA Sequencing Test, 358 |
|
|
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 |
|
|
BSND DNA Sequencing Test, 765 |
|
|
CASR DNA Sequencing Test, 825 |
|
|
CLCNKB DNA Sequencing Test, 764 |
|
|
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 |
|
|
CYP11B1 DNA Sequencing Test, 774 |
|
|
CYP11B1/2 DNA Chimeric Gene Fusion Test, 779 |
|
|
Early Onset Nephrotic Syndrome Evaluation, 722 |
|
|
Hereditary Interstitial Kidney Disease Assay, 770 |
|
|
Hereditary Renal Tubular Disorders Evaluation, 767 |
|
|
HNF1B DNA Sequencing and Deletion Evaluation, 776 |
|
|
HSD11B2 DNA Sequencing Test, 775 |
|
|
INF2 (FSGS) DNA Sequencing Test, 716 |
|
|
Inherited Focal and Segmental Glomerulosclerosis (FSGS) Evaluation, 717 |
|
|
KCNJ1 DNA Sequencing Test, 763 |
|
|
LAMB2 DNA Sequencing Test, 714 |
|
|
Liddle's Syndrome Evaluation, 747 |
|
|
Monogenic Hypertension Evaluation, 749 |
|
|
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 |
|
|
PLCE1 DNA Sequencing Test, 718 |
|
|
Pseudohypoaldosteronism Type 1 Evaluation, 748 |
|
|
SCNN1A DNA Sequencing Test, 772 |
|
|
SCNN1B DNA Sequencing Test, 745 |
|
|
SCNN1G DNA Sequencing Test, 746 |
|
|
SLC12A1 DNA Sequencing Test, 762 |
|
|
SLC12A3 DNA Sequencing Test, 766 |
|
|
TRPC6 DNA Sequencing Test, 712 |
|
|
WT1 DNA Sequencing Test, 713 |
|
|
CHRNB2 DNA Sequencing Test, 547b |
|
|
MEF2C DNA Sequencing Test, 754 |
|
|
MEF2C Evaluation, 7540 |
|
|
Spinal Muscular Atrophy Carrier Test, 444 |
|
