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Genetic Tests Offered (all nonprofit)

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The prices of these tests as posted below are in keeping with our mission, which is to provide high-quality, low-cost, nonprofit genetic tests to all patients who need them.

Tests Currently Offered

If the test you are interested in does not appear on this list, you can safely assume we do not offer it at this time. While that may change in the future, until such time that we do, we recommend you visit www.GeneTests.org for a list of laboratories that may be able to assist you now.

Questions?

Assembled for your convenience, this FAQ section is our most efficient means of answering your most frequently asked questions.


Disorder Mode of Inheritance Gene(s) Cost Estimated Turnaround Methodology CPT Codes
ABCA4 Retinal Degeneration Autosomal Recessive and Autosomal Dominant
Please submit parental samples (no charge) in addition to the patient's sample; requisition needed for each.
ABCA4 & ELOVL4 (Leu263 del5tttCTTAA) First Tier Testing
$463
12-14 weeks Allele-Specific Testing Followed by Conventional Sequencing 81479
Second Allele Testing
$1,611
14-16 weeks Conventional Sequencing 81479
Achromatopsia Autosomal Recessive CNGA3(exon 8) & CNGB3(Exon 10) First Tier Testing
$233
8-10 weeks Conventional Sequencing 81479
Autosomal Recessive & X-linked CNGA3, CNGB3, CNNM4, GNAT2, KCNV2, NBAS, OPN1LW, PDE6C, PDE6H & RPGR Exome Testing
$2200
14-16 weeks Conventional Sequencing & Next Generation Sequencing 81479
Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV) Autosomal Dominant CAPN5 $373 12-14 weeks Conventional Sequencing 81479
Bardet-Biedl Syndrome Autosomal Recessive BBS1 (Met390Arg) BBS10 (Leu90 ins1T) First Tier Testing
$140
8-10 weeks Allele-Specific Testing 81479
ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290, INPP5E, LZTFL1, MKS1, MKKS, SDCCAG8, TRIM32 & TTC8 Exome Testing
$2200
14-16 weeks Allele-Specific Testing Followed by Conventional Sequencing and Next Generation Sequencing 81479
Best Disease Autosomal Dominant BEST1 (Full coding region) $373 12-14 weeks Conventional Sequencing 81406
Blue Cone Monochromacy X-Linked OPNL1W - Locus Control Region $429 6-8 weeks Deletion Detection (Males Only) 81479
Choroideremia X-Linked CHM (Full coding region) $485 14-16 weeks Conventional Sequencing 81479
Cone-Rod Dystrophy Autosomal Dominant CRX (full coding region), GUCA1A(Leu151Phe) & GUCY2D (Exon 13) $261 8-10 weeks Conventional Sequencing 81404, 81479
Congenital Stationary Night Blindness Autosomal Dominant, Autosomal Recessive & X-Linked CACNA1F, GRM6, PDE6B & TRPM1 First Tier Testing
$233
8-10 weeks Conventional Sequencing 81479
CABP4, CACNA1F, GNAT1, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1 Exome Testing
$2200
14-16 weeks Conventional Sequencing & Next Generation Sequencing 81479
Corneal Dystrophy-Stromal Autosomal Dominant TGFBI (Exons 4 & 11-14) $205 12-14 weeks Conventional Sequencing 81479
Enhanced
S-Cone Syndrome
Autosomal Recessive
Please submit parental samples (no charge) in addition to the patient's sample; requisition needed for each.
NR2E3 (Exons 2-8) $314 14-16 weeks Conventional Sequencing 81479
Jewish Retinal Degeneration Panel - Leber Congenital Amaurosis, Retinitis Pigmentosa and Usher Syndrome Autosomal Recessive DHDDS (Lys42Glu), LCA5 (Gln279Stop), MAK (Lys429 Alu Insertion), PCDH15 (Arg245Stop), USH3A (Asn48Lys) $205 4 weeks Conventional Sequencing 81400, 81479
Juvenile Open Angle Glaucoma Autosomal Dominant MYOC (full coding region) $205 12-14 weeks Conventional Sequencing 81479
Juvenile X-Linked Retinoschisis X-Linked RS1 (full coding region) $233 10-12 weeks Conventional Sequencing 81479
Leber Congenital Amaurosis Autosomal Recessive Please submit parental samples (no charge) in addition to the patient's sample; requisition needed for each. AIPL1, CEP290, CRB1, CRX, GUCY2D, IQCB1, LCA5, LRAT, NMNAT1, RD3, RDH12, RPE65 (entire coding region), RPGRIP1, SPATA7, TULP1 First Tier Testing
$957
14-16 weeks Allele-Specific Testing Followed by Conventional Sequencing 81404, 81406, 81408, 81479
Exome Testing
$2800
6-8 months Allele-Specific Testing Followed by Conventional Sequencing and Next Generation Sequencing 81479
Leber Hereditary Optic Neuropathy Mitochondrial 3460, 11778, 14484 $140 6-8 weeks Allele-Specific Testing 81401
Malattia Leventinese Autosomal Dominant EFEMP1 (Arg345Trp mutation) $140 6-8 weeks Allele-Specific Testing 81479
Norrie Disease X-Linked NDP (full coding region) $121 8-10 weeks Conventional Sequencing 81404
North Carolina Macular Dystrophy Autosomal Dominant PRDM13, IRX1 $243 6-8 weeks Allele-Specific Testing and Conventional Sequencing 81479
Pattern Dystrophy Autosomal Dominant RDS (full coding region) $149 8-10 weeks Conventional Sequencing 81404
Primary Open Angle Glaucoma Autosomal Dominant MYOC (full coding region) $205 12-14 weeks Conventional Sequencing 81479
Retinitis Pigmentosa Autosomal Dominant C1QTNF5, IMPDH1, MAK, NR2E3, PRPF3, PRPF31, PRPF8, RDH12, RDS, RHO, RP1, RP9, SNRNP200, TOPORS $320 8-10 weeks Allele-Specific Testing Followed by Conventional Sequencing 81404, 81479
Retinitis Pigmentosa Autosomal Recessive ABCA4, CC2D2A, CERKL, CLRN1, CNGA1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, IDH3B, IMPG2, LRAT, MAK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PROM1, RBP3, RDH12, RGR, RLBP1, RPE65, SAG, TTPA, TULP1, USH2A, ZNF513 $833 12– 14 weeks Allele-Specific Testing Followed by Conventional Sequencing 81408, 81479
Retinitis Pigmentosa X-Linked RP2, RPGR $865 12-14 weeks Conventional Sequencing 81479
Sorsby Dystrophy Autosomal Dominant TIMP3 (Exons 1 & 5) $121 8-10 weeks Conventional Sequencing 81479
Stargardt like Macular Dystrophy Autosomal Dominant ELOVL4 (Leu263 del5tttCTTAA) $140 6-8 weeks Allele-Specific Testing 81479
Stargardt Disease Autosomal Recessive and Autosomal Dominant
Please submit parental samples (no charge) in addition to the patient's sample; requisition needed for each.
ABCA4 & ELOVL4 (Leu263 del5tttCTTAA) First Tier Testing
$463
12-14 weeks Allele-Specific Testing Followed by Conventional Sequencing 81408, 81479
Second Allele Testing
$1,611
14-16 weeks Conventional Sequencing 81408, 81479
Usher Syndrome Autosomal Recessive CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G & USH2A First Tier Testing
$575
8-10 weeks Allele-Specific Testing Followed by Conventional Sequencing 81400, 81407, 81408, 81479
Second Allele Testing
$575-$1,626
10-12 weeks Conventional Sequencing 81400, 81407, 81408, 81479
ABHD12, CDH23, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15, USH1C, USH1G & USH2A Exome Testing
$2200
14-16 weeks Allele-Specific Testing Followed by Conventional Sequencing and Next Generation Sequencing 81400, 81407, 81408, 81479
X-Linked Familial Exudative Vitreoretinopathy (XL-FEVR) X-Linked NDP (full coding region) $121 8-12 weeks Conventional Sequencing 81479

Tests to be offered


Disorder Mode of Inheritance Gene(s) Cost Turnaround Methodology CPT Codes
Aniridia Autosomal Dominant PAX6 TBD 12-14 weeks Not yet available Not yet available
Dominant Optic Atrophy Autosomal Dominant OPA1 TBD 14-16 weeks Not yet available Not yet available
Retrieved Wed, 2018-10-17 14:31
Last modified Fri, 04/30/2010 - 17:19
www.carverlab.org/tests