Skip to content
Use your HSA or FSA funds

Condition report · Urological

Nephronophthisis and Senior-Løken Syndrome

Inherited conditions in which the kidney tubules gradually scar and form small cysts, often leading to kidney failure in childhood or early adulthood. In Senior-Løken syndrome the retina is also affected.

A condition report looks for rare variants known to cause the conditions it covers.

Included in Premium and Premium + AI

Premium adds $99 per kit for the first year.

Order with Premium

The 2 conditions we analyse

Nephronophthisis

Autosomal recessive

A recessively inherited kidney disease, caused by variants in NPHP1 and other cilia genes, in which progressive tubulointerstitial scarring leads to kidney failure, typically in the first three decades of life.

What a diagnosis changes

Knowing allows regular kidney function monitoring, timely planning for dialysis or transplantation, and carrier testing for relatives.

Genes analysed

Also known as

medullary cystic kidney; nephronophthisis (disease)

Includes 18 related subtypes ↓
  • late-onset nephronophthisis
  • nephronophthisis 1
  • nephronophthisis 11
  • nephronophthisis 12
  • nephronophthisis 13
  • nephronophthisis 14
  • nephronophthisis 15
  • nephronophthisis 16
  • nephronophthisis 18
  • nephronophthisis 19
  • nephronophthisis 2
  • nephronophthisis 20
  • nephronophthisis 3
  • nephronophthisis 4
  • nephronophthisis 7
  • nephronophthisis 9
  • nephronophthisis-like nephropathy 1
  • nephronophthisis-like nephropathy 2
MONDO:0019005Orphanet 655MedGen 146912

Senior-Løken Syndrome

Autosomal recessive

A form of nephronophthisis combined with retinal degeneration that can cause early vision loss.

What a diagnosis changes

Knowing prompts referral for an eye examination alongside kidney monitoring.

Genes analysed

Also known as

nephronophthisis with retinal dystrophy; renal dysplasia retinal aplasia; renal dysplasia-retinal aplasia syndrome; Senior Loken syndrome; SLSN

Includes 9 related subtypes ↓
  • nephronophthisis 15
  • Senior-Loken syndrome 1
  • senior-loken syndrome 3
  • Senior-Loken syndrome 4
  • Senior-Loken syndrome 5
  • Senior-Loken syndrome 6
  • Senior-Loken syndrome 7
  • Senior-Loken syndrome 8
  • Senior-Loken syndrome 9
MONDO:0017842Orphanet 3156MedGen 96045

Limitations

  • About one in five cases of nephronophthisis are caused by a deletion of the whole NPHP1 gene on both copies of chromosome 2. Detecting this relies on copy-number analysis rather than standard variant calling, so sensitivity for large deletions may be lower than for small variants.

Other urological conditions

All conditions →

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Premium adds $99 per kit for the first year.

Order with Premium