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Tests and Panels

NDP-Related Vitreoretinopathies via the NDP Gene

Test Code

Method

Price

1067

Sanger Sequencing

$440

9209

Sequencing with CNV PGxome

$890
Nail-Patella Syndrome via the LMX1B Gene

Test Code

Method

Price

1458

Sanger Sequencing

$680

8581

Sequencing with CNV PGxome

$890
Naxos Disease and Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the JUP Gene

Test Code

Method

Price

11409

Sequencing with CNV PGxome

$890

208

Sanger Sequencing

$750
Nemaline Myopathy (NEM2) via the Nebulin (NEB) Gene

Test Code

Method

Price

1772

Sequencing with CNV PG-Select

$1590
Nemaline Myopathy 10 via the LMOD3 Gene

Test Code

Method

Price

11451

Sequencing with CNV PGxome

$890

4426

Sanger Sequencing

$610
Nemaline Myopathy 5 (Amish Nemaline Myopathy) via the TNNT1 Gene

Test Code

Method

Price

11755

Sequencing with CNV PGxome

$890

332

Sanger Sequencing

$780
Nemaline Myopathy 7 via the CFL2 Gene

Test Code

Method

Price

9023

Sequencing with CNV PGxome

$890

249

Sanger Sequencing

$540
Nemaline Myopathy 9 via the KLHL41 Gene

Test Code

Method

Price

11435

Sequencing with CNV PGxome

$890

327

Sanger Sequencing

$750
Nemaline Myopathy Panel

Test Code

Method

Price

10283

Sequencing with CNV PGxome

$1940
Nemaline Myopathy With Cores (NEM6) via the KBTBD13 Gene

Test Code

Method

Price

8905

Sequencing with CNV PGxome

$890

598

Sanger Sequencing

$580
Nemaline Myopathy via the KLHL40 Gene

Test Code

Method

Price

11433

Sequencing with CNV PGxome

$890

1491

Sanger Sequencing

$750
Nemaline Myopathy via the NEB Exon 55 Deletion

Test Code

Method

Price

356

Targeted Deletion

$250
Nemaline Myopathy via the NEB Gene, Exons 82-105 (Triplicate Repeat Region)

Test Code

Method

Price

2079

Sanger Sequencing

$1440
Neonatal Crisis Panel

Test Code

Method

Price

7383

Sequencing with CNV PGxome

$1890
Neonatal Respiratory Distress Panel

Test Code

Method

Price

13349

Sequencing with CNV PGxome

$890
Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via the AVPR2 Gene

Test Code

Method

Price

981

Sanger Sequencing

$580

8907

Sequencing with CNV PGxome

$890
Nephrogenic Diabetes Insipidus (NDI) via the AQP2 Gene

Test Code

Method

Price

9025

Sequencing with CNV PGxome

$890

982

Sanger Sequencing

$540
Nephrolithiasis and Nephrocalcinosis Panel

Test Code

Method

Price

10395

Sequencing with CNV PGxome

$890
Nephrolithiasis via the SLC26A1 Gene

Test Code

Method

Price

3785

Sanger Sequencing

$680

8583

Sequencing with CNV PGxome

$890
Nephronophthisis / Senior-Loken Syndrome and Bardet-Biedl Syndrome via the SDCCAG8 Gene

Test Code

Method

Price

15197

Sequencing with CNV PG-Select

$640
Nephronophthisis and Joubert Syndrome via the NPHP1 Gene

Test Code

Method

Price

15261

Sequencing with CNV PG-Select

$640
Nephronophthisis and Senior-Loken Syndrome Panel

Test Code

Method

Price

10341

Sequencing with CNV PGxome

$890
Nephronophthisis and Senior-Loken Syndrome via the CEP164 Gene

Test Code

Method

Price

11025

Sequencing with CNV PGxome

$890

640

Sanger Sequencing

$1690
Nephronophthisis and Senior-Loken Syndrome via the IQCB1/NPHP5 Gene

Test Code

Method

Price

655

Sanger Sequencing

$790

9937

Sequencing with CNV PGxome

$890
Nephronophthisis and Senior-Loken syndrome via the NPHP3 Gene

Test Code

Method

Price

15263

Sequencing with CNV PG-Select

$640
Nephronophthisis and Situs Inversus via the ANKS6 Gene

Test Code

Method

Price

2124

Sanger Sequencing

$1020

11019

Sequencing with CNV PGxome

$890
Nephronophthisis via the GLIS2/NPHP7 Gene

Test Code

Method

Price

656

Sanger Sequencing

$610

8787

Sequencing with CNV PGxome

$890
Nephronophthisis via the INVS / NPHP2 Gene

Test Code

Method

Price

15251

Sequencing with CNV PG-Select

$640
Nephronophthisis via the NEK8/NPHP9 Gene

Test Code

Method

Price

8249

Sequencing with CNV PGxome

$890

657

Sanger Sequencing

$870
Nephronophthisis via the NPHP4 Gene

Test Code

Method

Price

15265

Sequencing with CNV PG-Select

$640
Nephronophthisis-Like Nephropathy-1 (NPHPL1) via the XPNPEP3 Gene

Test Code

Method

Price

658

Sanger Sequencing

$790

8365

Sequencing with CNV PGxome

$890
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Panel

Test Code

Method

Price

10417

Sequencing with CNV PGxome

$990
Nephrotic Syndrome or Palmoplantar Keratoderma and Woolly Hair via the KANK2 Gene

Test Code

Method

Price

11413

Sequencing with CNV PGxome

$890

4406

Sanger Sequencing

$1060
Nephrotic Syndrome via the EMP2 Gene

Test Code

Method

Price

1788

Sanger Sequencing

$580

8909

Sequencing with CNV PGxome

$890
Nephrotic Syndrome via the KANK1 Gene

Test Code

Method

Price

11411

Sequencing with CNV PGxome

$890

4405

Sanger Sequencing

$1130
Nephrotic Syndrome via the KANK4 Gene

Test Code

Method

Price

4407

Sanger Sequencing

$970

5097

Sequencing with CNV PGxome

$890
Netherton Syndrome via the SPINK5 Gene

Test Code

Method

Price

11709

Sequencing with CNV PGxome

$890

1763

Sanger Sequencing

$1720
Neuroblastoma Panel

Test Code

Method

Price

5057

Sequencing with CNV PGxome

$890
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Panel

Test Code

Method

Price

2695

Sequencing with CNV PGxome

$890
Neurodevelopmental Disorder with or without Variable Brain Abnormalities via the MAPK8IP3 Gene

Test Code

Method

Price

15713

Sequencing with CNV PGxome

$890
Neurofibromatosis (NF) Type 1 and Legius Syndrome Panel

Test Code

Method

Price

10099

Sequencing with CNV PGxome

$890
Neurofibromatosis Type 1 and Related Disorders via MLPA of NF1

Test Code

Method

Price

2057

MLPA

$540
Neurofibromatosis Type 1 and Related Disorders via the NF1 Gene

Test Code

Method

Price

4361

Sequencing with CNV PG-Select

$640
Neurofibromatosis Type 2 via the NF2 Gene

Test Code

Method

Price

4041

Sequencing with CNV PG-Select

$640
Neurogenic Arthrogryposis Multiplex Congenita-1 with Myelin Defect via the LGI4 Gene

Test Code

Method

Price

13305

Sequencing with CNV PGxome

$890
Neurohypophyseal Diabetes Insipidus (NDI) via the AVP Gene

Test Code

Method

Price

983

Sanger Sequencing

$580
Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Panel

Test Code

Method

Price

10137

Sequencing with CNV PGxome

$890
Neuronal Ceroid Lipofuscinoses (Batten Disease) Panel

Test Code

Method

Price

10311

Sequencing with CNV PGxome

$890
Neuronal Ceroid Lipofuscinosis 1 via the PPT1 Gene

Test Code

Method

Price

7201

Sequencing with CNV PG-Select

$640
Neuronal Ceroid Lipofuscinosis 10 via the CTSD Gene

Test Code

Method

Price

4131

Sequencing with CNV PG-Select

$640
Neuronal Ceroid Lipofuscinosis 12 via the ATP13A2 Gene

Test Code

Method

Price

11097

Sequencing with CNV PGxome

$890

2107

Sanger Sequencing

$1500
Neuronal Ceroid Lipofuscinosis 13 via the CTSF Gene

Test Code

Method

Price

2109

Sanger Sequencing

$780

4133

Sequencing with CNV PGxome

$890
Neuronal Ceroid Lipofuscinosis 14 via the KCTD7 Gene

Test Code

Method

Price

3809

Sequencing with CNV PG-Select

$640
Neuronal Ceroid Lipofuscinosis 2 via the TPP1 Gene

Test Code

Method

Price

7203

Sequencing with CNV PG-Select

$640
Neuronal Ceroid Lipofuscinosis 3 (Batten Disease) via the CLN3 c.461-280_677+382 Deletion

Test Code

Method

Price

3739

Targeted Deletion

$250
Neuronal Ceroid Lipofuscinosis 4 via the DNAJC5 Gene

Test Code

Method

Price

4135

Sequencing with CNV PG-Select

$640
Neuronal Ceroid Lipofuscinosis 5 via the CLN5 Gene

Test Code

Method

Price

7601

Sequencing with CNV PG-Select

$640
Neuronal Ceroid Lipofuscinosis 6 via the CLN6 Gene

Test Code

Method

Price

4125

Sequencing with CNV PG-Select

$640
Neuronal Ceroid Lipofuscinosis 7 via the MFSD8 Gene

Test Code

Method

Price

3811

Sequencing with CNV PG-Select

$640
Neuronal Ceroid Lipofuscinosis 8 via the CLN8 Gene

Test Code

Method

Price

7603

Sequencing with CNV PG-Select

$640
Neuronal Ceroid Lipofuscinosis Type 3 via the CLN3 Gene

Test Code

Method

Price

4577

Sequencing with CNV PG-Select

$640
Neutral Lipid Storage Disease with Myopathy via the PNPLA2 Gene

Test Code

Method

Price

11595

Sequencing with CNV PGxome

$890

599

Sanger Sequencing

$820
Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via the PTCH1 Gene

Test Code

Method

Price

10673

Sequencing with CNV PG-Select

$540
Niemann-Pick Disease Type C Panel

Test Code

Method

Price

3425

Sequencing with CNV PG-Select

$640
Niemann-Pick Disease Type C via the NPC1 Gene

Test Code

Method

Price

4811

Sequencing with CNV PG-Select

$640
Niemann-Pick Disease Type C via the NPC2 Gene

Test Code

Method

Price

7763

Sequencing with CNV PG-Select

$640
Niemann-Pick Disease Types A and B via the SMPD1 Gene

Test Code

Method

Price

7833

Sequencing with CNV PG-Select

$640
Nijmegen Breakage Syndrome via the NBN Gene

Test Code

Method

Price

4837

Sequencing with CNV PG-Select

$540
Non-Immune Hydrops Fetalis Panel

Test Code

Method

Price

12661

Sequencing with CNV PGxome

$1240
Non-Syndromic Monogenic Obesity Panel

Test Code

Method

Price

15183

Sequencing with CNV PG-Select

$640
Non-Syndromic Monogenic Obesity via the KSR2 Gene

Test Code

Method

Price

15173

Sequencing with CNV PG-Select

$640
Non-Syndromic Monogenic Obesity via the LEP Gene

Test Code

Method

Price

15175

Sequencing with CNV PG-Select

$640
Non-Syndromic Monogenic Obesity via the LEPR Gene

Test Code

Method

Price

15177

Sequencing with CNV PG-Select

$640
Non-Syndromic Monogenic Obesity via the PCSK1 Gene

Test Code

Method

Price

15189

Sequencing with CNV PG-Select

$640
Non-Syndromic Monogenic Obesity via the POMC Gene

Test Code

Method

Price

15191

Sequencing with CNV PG-Select

$640
Non-syndromic Autosomal Recessive Intellectual Diasbility via the TRAPPC9 Gene

Test Code

Method

Price

15207

Sequencing with CNV PG-Select

$640
Nonphotosensitive Trichothiodystrophy 5 (X-linked Intellectual Disability) via the RNF113A Gene

Test Code

Method

Price

5799

Sanger Sequencing

$490

10477

Sequencing with CNV PGxome

$890
Nonsyndromic Congenital Heart Disease Panel

Test Code

Method

Price

13097

Sequencing with CNV PGxome

$1070
Nonsyndromic Holoprosencephaly via the TDGF1 Gene

Test Code

Method

Price

15465

Sequencing with CNV PGxome

$890

2793

Sanger Sequencing

$580
Noonan Spectrum Disorders/RASopathies Panel

Test Code

Method

Price

10327

Sequencing with CNV PGxome

$890
Noonan Syndrome via the A2ML1 Gene

Test Code

Method

Price

10655

Sequencing with CNV PG-Select

$640
Noonan Syndrome via the LZTR1 Gene

Test Code

Method

Price

4597

Sequencing with CNV PG-Select

$640
Noonan Syndrome via the MAP3K8 Gene

Test Code

Method

Price

12023

Sequencing with CNV PG-Select

$640
Noonan Syndrome via the NRAS Gene

Test Code

Method

Price

9137

Sequencing with CNV PG-Select

$640
Noonan Syndrome via the RASA2 Gene

Test Code

Method

Price

10639

Sequencing with CNV PG-Select

$640
Noonan Syndrome via the RIT1 Gene

Test Code

Method

Price

8585

Sequencing with CNV PG-Select

$640
Noonan Syndrome via the SOS1 Gene

Test Code

Method

Price

7207

Sequencing with CNV PG-Select

$640
Noonan Syndrome via the SOS2 Gene

Test Code

Method

Price

4365

Sequencing with CNV PG-Select

$640
Noonan Syndrome via the SPRY1 Gene

Test Code

Method

Price

12025

Sequencing with CNV PG-Select

$640
Noonan-Like Syndrome via the RRAS Gene

Test Code

Method

Price

10641

Sequencing with CNV PG-Select

$640
Noonan-Like Syndrome with Loose Anagen Hair via the SHOC2 Gene

Test Code

Method

Price

7209

Sequencing with CNV PG-Select

$640
North Carolina Type Macular Dystrophy via the PRDM13 Gene

Test Code

Method

Price

15287

Sequencing with CNV PG-Select

$640

Tests and Panels

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