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.
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.
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 | |
| 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 | BBS1, CC2D2A, CERKL, CNGB1, CLRN1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, IDH3B, IMPG2, IQCB1, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PROM1, RBP3, RDH12, RGR, RHBDD2, RHO, RLBP1, RPE65, SAG, SPATA7, 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) & RP1L1 (Arg45Trp) | 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 |
| 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 |